alanine has been researched along with Amyotrophic Lateral Sclerosis in 64 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
Amyotrophic Lateral Sclerosis: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
| Excerpt | Relevance | Reference |
|---|---|---|
| "We identified a missense alanine to valine mutation at codon 4 (A4V) in the Cu/Zn superoxide dismutase (SOD1) gene in a 51-year-old male of Chinese origin with familial amyotrophic lateral sclerosis (ALS)." | 3.88 | Identification of an A4V SOD1 mutation in a Chinese patient with amyotrophic lateral sclerosis without the A4V founder effect common in North America. ( Chen, L; Fan, D; Liu, X; Ma, Y; Tang, L, 2018) |
| "We present three members of a pedigree with familial amyotrophic lateral sclerosis (FALS) who have a rare mutation in exon 4 of Cu/Zn superoxide dismutase (SOD1) codon position 89, converting alanine to valine." | 3.72 | A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy. ( Dellefave, L; Deng, HX; Pascuzzi, RT; Rezania, K; Roos, RP; Siddique, N; Siddique, T; Yan, J, 2003) |
| "The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive familial amyotrophic lateral sclerosis (FALS), is associated with a uniform phenotype characterized by slowly ascending paresis and long survival." | 3.71 | A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis. ( Del Corona, A; Filosto, M; Mancuso, M; Murri, L; Naini, A; Rocchi, A; Sartucci, F; Siciliano, G, 2002) |
| " Here, we show in the model system Caenorhabditis elegans that expression of the arginine-containing dipeptides, but not alanine-containing dipeptides, produces toxic phenotypes in multiple cellular contexts, including motor neurons." | 1.46 | Nuclear localized C9orf72-associated arginine-containing dipeptides exhibit age-dependent toxicity in C. elegans. ( Lamitina, ST; Monaghan, J; Pandey, UB; Rudich, P; Snoznik, C; Watkins, SC, 2017) |
| "In these families, FTLD cosegregates with ALS." | 1.36 | Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. ( Borghero, G; Brunetti, M; Calvo, A; Chiò, A; Cistaro, A; Marrosu, MG; Moglia, C; Montuschi, A; Murru, MR; Mutani, R; Ossola, I; Restagno, G; Schymick, JC; Ticca, A; Traynor, BJ, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 8 (12.50) | 18.2507 |
| 2000's | 28 (43.75) | 29.6817 |
| 2010's | 21 (32.81) | 24.3611 |
| 2020's | 7 (10.94) | 2.80 |
| Authors | Studies |
|---|---|
| Sonobe, Y | 1 |
| Aburas, J | 1 |
| Krishnan, G | 1 |
| Fleming, AC | 1 |
| Ghadge, G | 1 |
| Islam, P | 1 |
| Warren, EC | 1 |
| Gu, Y | 1 |
| Kankel, MW | 1 |
| Brown, AEX | 1 |
| Kiskinis, E | 1 |
| Gendron, TF | 1 |
| Gao, FB | 1 |
| Roos, RP | 3 |
| Kratsios, P | 1 |
| Jankowiak, T | 1 |
| Cholewiński, M | 1 |
| Bączyk, M | 1 |
| Morón-Oset, J | 1 |
| Fischer, LKS | 1 |
| Jauré, N | 1 |
| Zhang, P | 1 |
| Jahn, AJ | 1 |
| Supèr, T | 1 |
| Pahl, A | 1 |
| Isaacs, AM | 1 |
| Grönke, S | 1 |
| Partridge, L | 1 |
| Canosa, A | 1 |
| Grassano, M | 1 |
| Barberis, M | 1 |
| Brunetti, M | 3 |
| Manera, U | 1 |
| Vasta, R | 1 |
| Cammarosano, S | 1 |
| De Marco, G | 1 |
| Calvo, A | 3 |
| Chiò, A | 3 |
| Moglia, C | 3 |
| Jensen, BK | 1 |
| Schuldi, MH | 1 |
| McAvoy, K | 1 |
| Russell, KA | 1 |
| Boehringer, A | 1 |
| Curran, BM | 1 |
| Krishnamurthy, K | 1 |
| Wen, X | 1 |
| Westergard, T | 1 |
| Ma, L | 1 |
| Haeusler, AR | 1 |
| Edbauer, D | 2 |
| Pasinelli, P | 1 |
| Trotti, D | 1 |
| Bereman, MS | 1 |
| Kirkwood, KI | 1 |
| Sabaretnam, T | 1 |
| Furlong, S | 1 |
| Rowe, DB | 1 |
| Guillemin, GJ | 1 |
| Mellinger, AL | 1 |
| Muddiman, DC | 1 |
| Fagagnini, A | 1 |
| Garavís, M | 1 |
| Gómez-Pinto, I | 1 |
| Fasoli, S | 1 |
| Gotte, G | 1 |
| Laurents, DV | 1 |
| Rudich, P | 1 |
| Snoznik, C | 1 |
| Watkins, SC | 1 |
| Monaghan, J | 1 |
| Pandey, UB | 1 |
| Lamitina, ST | 1 |
| Guo, Q | 1 |
| Lehmer, C | 1 |
| Martínez-Sánchez, A | 1 |
| Rudack, T | 1 |
| Beck, F | 1 |
| Hartmann, H | 1 |
| Pérez-Berlanga, M | 1 |
| Frottin, F | 1 |
| Hipp, MS | 1 |
| Hartl, FU | 1 |
| Baumeister, W | 1 |
| Fernández-Busnadiego, R | 1 |
| Tang, L | 1 |
| Ma, Y | 1 |
| Liu, X | 1 |
| Chen, L | 1 |
| Fan, D | 1 |
| Yang, H | 1 |
| Wang, G | 1 |
| Sun, H | 1 |
| Shu, R | 1 |
| Liu, T | 1 |
| Wang, CE | 1 |
| Liu, Z | 1 |
| Zhao, Y | 1 |
| Zhao, B | 1 |
| Ouyang, Z | 1 |
| Yang, D | 1 |
| Huang, J | 1 |
| Zhou, Y | 1 |
| Li, S | 1 |
| Jiang, X | 1 |
| Xiao, Z | 1 |
| Li, XJ | 1 |
| Lai, L | 1 |
| Sakamoto, H | 1 |
| Akamatsu, M | 1 |
| Hirano, M | 1 |
| Saigoh, K | 1 |
| Ueno, S | 1 |
| Isono, C | 1 |
| Kusunoki, S | 1 |
| Nakamura, Y | 1 |
| Yang, X | 1 |
| Xi, J | 1 |
| An, R | 1 |
| Yu, L | 1 |
| Lin, Z | 1 |
| Zhou, H | 1 |
| Xu, Y | 1 |
| Valbuena, GN | 1 |
| Rizzardini, M | 1 |
| Cimini, S | 1 |
| Siskos, AP | 1 |
| Bendotti, C | 3 |
| Cantoni, L | 1 |
| Keun, HC | 1 |
| Sassone, J | 1 |
| Taiana, M | 1 |
| Lombardi, R | 1 |
| Porretta-Serapiglia, C | 1 |
| Freschi, M | 1 |
| Bonanno, S | 2 |
| Marcuzzo, S | 2 |
| Caravello, F | 1 |
| Lauria, G | 1 |
| Popova, AA | 1 |
| Koksharova, OA | 1 |
| Muyderman, H | 1 |
| Hutson, PG | 1 |
| Matusica, D | 1 |
| Rogers, ML | 1 |
| Rush, RA | 1 |
| Salameh, JS | 1 |
| Atassi, N | 1 |
| David, WS | 1 |
| Museth, AK | 1 |
| Brorsson, AC | 1 |
| Lundqvist, M | 1 |
| Tibell, LA | 1 |
| Jonsson, BH | 1 |
| D'Ambrosi, N | 1 |
| Finocchi, P | 1 |
| Apolloni, S | 1 |
| Cozzolino, M | 1 |
| Ferri, A | 1 |
| Padovano, V | 1 |
| Pietrini, G | 1 |
| Carrì, MT | 1 |
| Volonté, C | 1 |
| Galaleldeen, A | 1 |
| Strange, RW | 1 |
| Whitson, LJ | 1 |
| Antonyuk, SV | 1 |
| Narayana, N | 1 |
| Taylor, AB | 1 |
| Schuermann, JP | 1 |
| Holloway, SP | 1 |
| Hasnain, SS | 1 |
| Hart, PJ | 1 |
| Yang, YS | 1 |
| Harel, NY | 1 |
| Strittmatter, SM | 1 |
| Battistini, S | 1 |
| Ricci, C | 1 |
| Lotti, EM | 1 |
| Benigni, M | 1 |
| Gagliardi, S | 1 |
| Zucco, R | 1 |
| Bondavalli, M | 1 |
| Marcello, N | 1 |
| Ceroni, M | 1 |
| Cereda, C | 1 |
| Pamphlett, R | 1 |
| Restagno, G | 2 |
| Ossola, I | 2 |
| Montuschi, A | 1 |
| Cistaro, A | 1 |
| Ticca, A | 2 |
| Traynor, BJ | 2 |
| Schymick, JC | 1 |
| Mutani, R | 2 |
| Marrosu, MG | 2 |
| Murru, MR | 2 |
| Borghero, G | 2 |
| Hegedus, J | 1 |
| Jones, KE | 1 |
| Gordon, T | 1 |
| Yamamoto-Watanabe, Y | 1 |
| Watanabe, M | 1 |
| Jackson, M | 1 |
| Akimoto, H | 1 |
| Sugimoto, K | 1 |
| Yasujima, M | 1 |
| Wakasaya, Y | 1 |
| Matsubara, E | 1 |
| Kawarabayashi, T | 1 |
| Harigaya, Y | 1 |
| Lyndon, AR | 1 |
| Shoji, M | 1 |
| Yang, WW | 1 |
| Sidman, RL | 1 |
| Taksir, TV | 1 |
| Treleaven, CM | 1 |
| Fidler, JA | 1 |
| Cheng, SH | 1 |
| Dodge, JC | 1 |
| Shihabuddin, LS | 1 |
| Pugliatti, M | 1 |
| Floris, G | 1 |
| Cannas, A | 1 |
| Parish, LD | 1 |
| Cossu, P | 1 |
| Abramzon, Y | 1 |
| Johnson, JO | 1 |
| Nalls, MA | 1 |
| Arepalli, S | 1 |
| Chong, S | 1 |
| Hernandez, DG | 1 |
| Baek, W | 1 |
| Koh, SH | 1 |
| Park, JS | 1 |
| Kim, YS | 1 |
| Kim, HY | 1 |
| Kwon, MJ | 1 |
| Ki, CS | 1 |
| Kim, SH | 1 |
| Vargas, MR | 1 |
| Johnson, DA | 2 |
| Johnson, JA | 2 |
| Zucca, I | 1 |
| Mastropietro, A | 1 |
| de Rosbo, NK | 1 |
| Cavalcante, P | 1 |
| Tartari, S | 1 |
| Preite, L | 1 |
| Mantegazza, R | 1 |
| Bernasconi, P | 1 |
| Allen, MJ | 1 |
| Lacroix, JJ | 1 |
| Ramachandran, S | 1 |
| Capone, R | 1 |
| Whitlock, JL | 1 |
| Ghadge, GD | 1 |
| Arnsdorf, MF | 1 |
| Lal, R | 1 |
| Fujita, Y | 1 |
| Ikeda, M | 1 |
| Yanagisawa, T | 1 |
| Senoo, Y | 1 |
| Okamoto, K | 1 |
| Liang, H | 1 |
| Ward, WF | 1 |
| Jang, YC | 1 |
| Bhattacharya, A | 1 |
| Bokov, AF | 1 |
| Li, Y | 1 |
| Jernigan, A | 1 |
| Richardson, A | 1 |
| Van Remmen, H | 1 |
| Shipp, EL | 1 |
| Cantini, F | 1 |
| Bertini, I | 1 |
| Valentine, JS | 2 |
| Banci, L | 1 |
| Mancuso, M | 1 |
| Filosto, M | 1 |
| Naini, A | 1 |
| Rocchi, A | 1 |
| Del Corona, A | 1 |
| Sartucci, F | 1 |
| Siciliano, G | 1 |
| Murri, L | 1 |
| Van Damme, P | 1 |
| Leyssen, M | 1 |
| Callewaert, G | 1 |
| Robberecht, W | 1 |
| Van Den Bosch, L | 1 |
| Rezania, K | 1 |
| Yan, J | 1 |
| Dellefave, L | 1 |
| Deng, HX | 1 |
| Siddique, N | 1 |
| Pascuzzi, RT | 1 |
| Siddique, T | 2 |
| Kuo, JJ | 1 |
| Schonewille, M | 1 |
| Schults, AN | 1 |
| Fu, R | 1 |
| Bär, PR | 1 |
| Anelli, R | 1 |
| Heckman, CJ | 1 |
| Kroese, AB | 1 |
| Turner, BJ | 1 |
| Lopes, EC | 1 |
| Cheema, SS | 1 |
| Pieri, M | 1 |
| Gaetti, C | 1 |
| Spalloni, A | 2 |
| Cavalcanti, S | 1 |
| Mercuri, N | 2 |
| Bernardi, G | 2 |
| Longone, P | 2 |
| Zona, C | 2 |
| Kirkinezos, IG | 1 |
| Hernandez, D | 1 |
| Bradley, WG | 1 |
| Moraes, CT | 1 |
| Atzori, C | 1 |
| Piva, R | 1 |
| Tortarolo, M | 1 |
| Strong, MJ | 1 |
| DeBiasi, S | 1 |
| Migheli, A | 1 |
| Albo, F | 1 |
| Ferrari, F | 1 |
| Mahoney, DJ | 1 |
| Rodriguez, C | 1 |
| Devries, M | 1 |
| Yasuda, N | 1 |
| Tarnopolsky, MA | 1 |
| Völkel, H | 1 |
| Selzle, M | 1 |
| Walk, T | 1 |
| Jung, G | 1 |
| Link, J | 1 |
| Ludolph, AC | 1 |
| Reuter, A | 1 |
| Zheng, C | 1 |
| Nennesmo, I | 1 |
| Fadeel, B | 1 |
| Henter, JI | 1 |
| Kiaei, M | 1 |
| Kipiani, K | 1 |
| Calingasan, NY | 1 |
| Wille, E | 1 |
| Chen, J | 1 |
| Heissig, B | 1 |
| Rafii, S | 1 |
| Lorenzl, S | 1 |
| Beal, MF | 2 |
| Messi, ML | 1 |
| Clark, HM | 1 |
| Prevette, DM | 1 |
| Oppenheim, RW | 1 |
| Delbono, O | 1 |
| Kraft, AD | 1 |
| Resch, JM | 1 |
| Kabashi, E | 1 |
| Agar, JN | 1 |
| Hong, Y | 1 |
| Taylor, DM | 1 |
| Minotti, S | 1 |
| Figlewicz, DA | 1 |
| Durham, HD | 1 |
| Lee, JK | 1 |
| Shin, JH | 1 |
| Suh, J | 1 |
| Choi, IS | 1 |
| Ryu, KS | 1 |
| Gwag, BJ | 1 |
| Van Deerlin, VM | 1 |
| Leverenz, JB | 1 |
| Bekris, LM | 1 |
| Bird, TD | 1 |
| Yuan, W | 1 |
| Elman, LB | 1 |
| Clay, D | 1 |
| Wood, EM | 1 |
| Chen-Plotkin, AS | 1 |
| Martinez-Lage, M | 1 |
| Steinbart, E | 1 |
| McCluskey, L | 1 |
| Grossman, M | 1 |
| Neumann, M | 1 |
| Wu, IL | 1 |
| Yang, WS | 1 |
| Kalb, R | 1 |
| Galasko, DR | 1 |
| Montine, TJ | 1 |
| Trojanowski, JQ | 2 |
| Lee, VM | 2 |
| Schellenberg, GD | 1 |
| Yu, CE | 1 |
| Nishida, CR | 1 |
| Gralla, EB | 1 |
| Rosen, DR | 1 |
| Bowling, AC | 1 |
| Patterson, D | 1 |
| Usdin, TB | 1 |
| Sapp, P | 1 |
| Mezey, E | 1 |
| McKenna-Yasek, D | 1 |
| O'Regan, J | 1 |
| Rahmani, Z | 1 |
| Ferrante, RJ | 2 |
| Tu, PH | 1 |
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| Robinson, KA | 1 |
| Gurney, ME | 1 |
| Andersen, PM | 1 |
| Nilsson, P | 1 |
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| Marklund, SL | 1 |
| Kim, SM | 2 |
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| Kwon, OB | 1 |
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| Bogdanov, MB | 1 |
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| Mueller, G | 1 |
| Wermer, M | 1 |
| Kaddurah-Daouk, R | 1 |
| Almer, G | 1 |
| Vukosavic, S | 1 |
| Romero, N | 1 |
| Przedborski, S | 1 |
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| Bentivoglio, M | 1 |
| Slominsky, PA | 1 |
| Shadrina, MI | 1 |
| Kondratyeva, EA | 1 |
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| Levitsky, GN | 1 |
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| Limborska, SA | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Longitudinal Assessment of Autonomic and Sensory Nervous System in ALS[NCT05747937] | 100 participants (Anticipated) | Interventional | 2021-05-15 | Recruiting | |||
| Sport Therapy for Contrasting the Deterioration of Muscle Oxidative Metabolism in Patients Affected by Amyotrophic Lateral Sclerosis (ALS) - Project ME_E_SLA[NCT02548663] | 30 participants (Actual) | Interventional | 2014-06-30 | Completed | |||
| Quantifying Fatigue of the Respiratory and Swallowing Musculature in Patients With Amyotrophic Lateral Sclerosis[NCT04468191] | 0 participants (Actual) | Interventional | 2021-02-10 | Withdrawn (stopped due to COVID-19 pandemic restrictions for data collection) | |||
| The Role of Moderate Aerobic Exercise as Determined by Cardiopulmonary Exercise Testing in ALS[NCT03326622] | 48 participants (Actual) | Interventional | 2013-07-01 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
2 reviews available for alanine and Amyotrophic Lateral Sclerosis
| Article | Year |
|---|---|
Neurotoxic Non-proteinogenic Amino Acid β-N-Methylamino-L-alanine and Its Role in Biological Systems.
Topics: Alanine; Alzheimer Disease; Amino Acids, Diamino; Amyotrophic Lateral Sclerosis; Animals; Humans; Ne | 2016 |
The human G93A-superoxide dismutase-1 mutation, mitochondrial glutathione and apoptotic cell death.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Apoptosis; Cell Death; Glu | 2009 |
62 other studies available for alanine and Amyotrophic Lateral Sclerosis
| Article | Year |
|---|---|
A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Arginine; C9orf72 Protein; Caenorhabditis elegans; | 2021 |
Differential Effects of Invasive Anodal Trans-spinal Direct Current Stimulation on Monosynaptic Excitatory Postsynaptic Potentials, Ia Afferents Excitability, and Motoneuron Intrinsic Properties Between Superoxide Dismutase Type-1 Glycine to Alanine Subst
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Electric Stimulation Therapy; Excitatory Postsynapt | 2022 |
Repeat length of C9orf72-associated glycine-alanine polypeptides affects their toxicity.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; C9orf72 Protein; Dipeptides; Drosophila; Frontotemp | 2023 |
A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Aspartic Acid; Cell Cycle Proteins; Female; Genetic Testing; | 2020 |
Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; C9orf72 Protein; Dipeptides; Frontotemporal Dementi | 2020 |
Metabolite Profiling Reveals Predictive Biomarkers and the Absence of β-Methyl Amino-l-alanine in Plasma from Individuals Diagnosed with Amyotrophic Lateral Sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Biomarkers; Female; Humans; Male; Mass Spectrometry; Metabol | 2020 |
NMR Characterization of Angiogenin Variants and tRNA
Topics: Alanine; Amyotrophic Lateral Sclerosis; Catalytic Domain; Crystallography, X-Ray; G-Quadruplexes; Hu | 2021 |
Nuclear localized C9orf72-associated arginine-containing dipeptides exhibit age-dependent toxicity in C. elegans.
Topics: Age Factors; Alanine; Amyotrophic Lateral Sclerosis; Animals; Arginine; C9orf72 Protein; Caenorhabdi | 2017 |
In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; C9orf72 Protein; Frontotemporal Dementia; HEK293 Ce | 2018 |
Identification of an A4V SOD1 mutation in a Chinese patient with amyotrophic lateral sclerosis without the A4V founder effect common in North America.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Asian People; Humans; Male; Middle Aged; Polymorphism, Singl | 2018 |
Species-dependent neuropathology in transgenic SOD1 pigs.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Animals, Genetically Modif | 2014 |
Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.
Topics: Adult; Aged; Alanine; Alkyl and Aryl Transferases; Amyotrophic Lateral Sclerosis; Asian People; Brai | 2014 |
Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population.
Topics: Adult; Aged; Alanine; Alkyl and Aryl Transferases; Amyotrophic Lateral Sclerosis; Asian People; Fema | 2015 |
Metabolomic Analysis Reveals Increased Aerobic Glycolysis and Amino Acid Deficit in a Cellular Model of Amyotrophic Lateral Sclerosis.
Topics: Aerobiosis; Alanine; Amino Acids; Amyotrophic Lateral Sclerosis; Animals; Caspase 3; Caspase 7; Cell | 2016 |
ALS mouse model SOD1G93A displays early pathology of sensory small fibers associated to accumulation of a neurotoxic splice variant of peripherin.
Topics: Alanine; Alternative Splicing; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Cell | 2016 |
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
Topics: Aged; Alanine; Amyotrophic Lateral Sclerosis; Diagnosis, Differential; Facial Paralysis; Humans; Mal | 2009 |
The ALS-associated mutation G93A in human copper-zinc superoxide dismutase selectively destabilizes the remote metal binding region.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Copper; Glycine; Humans; Protein Binding; Protein Stability; | 2009 |
The proinflammatory action of microglial P2 receptors is enhanced in SOD1 models for amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Cell Line, Transformed; Ce | 2009 |
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Copper; Crystallography, X-Ray; Gen | 2009 |
Reticulon-4A (Nogo-A) redistributes protein disulfide isomerase to protect mice from SOD1-dependent amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Chlorocebus aethiops; COS Cells; Glycine; Male; Mic | 2009 |
Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene.
Topics: Adult; Alanine; Amyotrophic Lateral Sclerosis; DNA Mutational Analysis; Exons; Family Health; Female | 2010 |
Study of 962 patients indicates progressive muscular atrophy is a form of ALS.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Humans; Muscular Atrophy, Spinal; Superoxide Dismutase; Supe | 2010 |
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.
Topics: Adult; Aged; Alanine; Amyotrophic Lateral Sclerosis; Brain; Cognition Disorders; DNA-Binding Protein | 2010 |
Development and use of the incremental twitch subtraction MUNE method in mice.
Topics: Action Potentials; Alanine; Amyotrophic Lateral Sclerosis; Animals; Biophysics; Electric Stimulation | 2009 |
Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3.
Topics: Aged; Aged, 80 and over; Alanine; Alzheimer Disease; Amyotrophic Lateral Sclerosis; Biomarkers; Case | 2010 |
Relationship between neuropathology and disease progression in the SOD1(G93A) ALS mouse.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Di | 2011 |
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
Topics: Aged; Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Case-Control Studies; DNA Mut | 2011 |
A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; DNA Mutational Analysis; Family Health; Female; Humans; Male | 2011 |
Decreased glutathione accelerates neurological deficit and mitochondrial pathology in familial ALS-linked hSOD1(G93A) mice model.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Cells, Cultured; Coculture Techniques; Disease Mode | 2011 |
Hind limb muscle atrophy precedes cerebral neuronal degeneration in G93A-SOD1 mouse model of amyotrophic lateral sclerosis: a longitudinal MRI study.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Brain; Disease Models, Animal; Glycine; Hindlimb; H | 2011 |
Mutant SOD1 forms ion channel: implications for ALS pathophysiology.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Biophysical Phenomena; Biophysics; Calcium; Cell Li | 2012 |
Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation.
Topics: Adult; Aged; Alanine; Amyotrophic Lateral Sclerosis; DNA-Binding Proteins; Family Health; Female; Ge | 2011 |
PGC-1α protects neurons and alters disease progression in an amyotrophic lateral sclerosis mouse model.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Di | 2011 |
Dynamic properties of the G93A mutant of copper-zinc superoxide dismutase as detected by NMR spectroscopy: implications for the pathology of familial amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Copper; Glycine; Humans; Models, Molecular; Nuclear Magnetic | 2003 |
A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.
Topics: Adult; Aged; Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Aspartic Acid; DNA Pri | 2002 |
The AMPA receptor antagonist NBQX prolongs survival in a transgenic mouse model of amyotrophic lateral sclerosis.
Topics: Age Factors; Alanine; Amyotrophic Lateral Sclerosis; Analysis of Variance; Animals; Behavior, Animal | 2003 |
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Topics: Adolescent; Adult; Age of Onset; Aged; Alanine; Amyotrophic Lateral Sclerosis; DNA Mutational Analys | 2003 |
Hyperexcitability of cultured spinal motoneurons from presymptomatic ALS mice.
Topics: Action Potentials; Alanine; Amyotrophic Lateral Sclerosis; Animals; Animals, Newborn; Disease Models | 2004 |
The serotonin precursor 5-hydroxytryptophan delays neuromuscular disease in murine familial amyotrophic lateral sclerosis.
Topics: 5-Hydroxytryptophan; Aging; Alanine; Amyotrophic Lateral Sclerosis; Animals; Animals, Newborn; Body | 2003 |
alpha-Amino-3-hydroxy-5-methyl-isoxazole-4-propionate receptors in spinal cord motor neurons are altered in transgenic mice overexpressing human Cu,Zn superoxide dismutase (Gly93-->Ala) mutation.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Cell Culture Techniques; Disease Models, Animal; El | 2003 |
An ALS mouse model with a permeable blood-brain barrier benefits from systemic cyclosporine A treatment.
Topics: Age Factors; Alanine; Amyotrophic Lateral Sclerosis; Animals; ATP Binding Cassette Transporter, Subf | 2004 |
Activated p38MAPK is a novel component of the intracellular inclusions found in human amyotrophic lateral sclerosis and mutant SOD1 transgenic mice.
Topics: Age Factors; Aged; Alanine; Amyotrophic Lateral Sclerosis; Animals; Female; Glycine; Humans; Immunoh | 2004 |
Cu/Zn-superoxide dismutase (GLY93-->ALA) mutation alters AMPA receptor subunit expression and function and potentiates kainate-mediated toxicity in motor neurons in culture.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Cells, Cultured; Drug Resistance; Fetus; Genetic Pr | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Fe | 2004 |
Reduced reactivation rate in mutant CuZnSOD and progression rate of amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Bacteria; Blotting, Western; Cloning, Molecular; Copper; Dis | 2004 |
Vascular endothelial growth factor prolongs survival in a transgenic mouse model of ALS.
Topics: Age Factors; Alanine; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Glycine; Human | 2004 |
Matrix metalloproteinase-9 regulates TNF-alpha and FasL expression in neuronal, glial cells and its absence extends life in a transgenic mouse model of amyotrophic lateral sclerosis.
Topics: ADAM Proteins; ADAM17 Protein; Alanine; Amyotrophic Lateral Sclerosis; Animals; Fas Ligand Protein; | 2007 |
The lack of effect of specific overexpression of IGF-1 in the central nervous system or skeletal muscle on pathophysiology in the G93A SOD-1 mouse model of ALS.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Cell Size; Cell Survival; Central Nervous System; G | 2007 |
Activation of the Nrf2-ARE pathway in muscle and spinal cord during ALS-like pathology in mice expressing mutant SOD1.
Topics: Alanine; Alkaline Phosphatase; Amyotrophic Lateral Sclerosis; Animals; Antioxidants; Gene Expression | 2007 |
Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Glycine; Humans; Mice; Mice | 2008 |
Tissue inhibitor of metalloproteinases-3 (TIMP-3) expression is increased during serum deprivation-induced neuronal apoptosis in vitro and in the G93A mouse model of amyotrophic lateral sclerosis: a potential modulator of Fas-mediated apoptosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Apoptosis; Cell Line, Tumo | 2008 |
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Alanine; Amyotrophic Lateral Sclerosis; Brain; Child; De | 2008 |
Characterization of three yeast copper-zinc superoxide dismutase mutants analogous to those coded for in familial amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Arginine; Edetic Acid; Glycine; Humans; | 1994 |
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
Topics: Age of Onset; Alanine; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Animals; DNA Primers; Exo | 1994 |
Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions.
Topics: Aging; Alanine; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Animals; Cytoskeleton; Glycine; | 1996 |
CuZn-superoxide dismutase, extracellular superoxide dismutase, and glutathione peroxidase in blood from individuals homozygous for Asp90Ala CuZu-superoxide dismutase mutation.
Topics: Alanine; Alleles; Amyotrophic Lateral Sclerosis; Aspartic Acid; Erythrocytes; Genetic Carrier Screen | 1998 |
Expression, purification, and characterization of a familial amyotrophic lateral sclerosis-associated D90A Cu,Zn-superoxide dismutase mutant.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Aspartic Acid; Chelating Agents; Co | 1998 |
The free radical-generating function of a familial amyotrophic lateral sclerosis-associated D90A Cu,Zn-superoxide dismutase mutant.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Aspartic Acid; Free Radicals; Human | 1998 |
Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Creatine; Disease Models, Animal; Glycine; Humans; | 1999 |
Inducible nitric oxide synthase up-regulation in a transgenic mouse model of familial amyotrophic lateral sclerosis.
Topics: Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Astrocytes; Gene Expressio | 1999 |
Activation and response to axotomy of microglia in the facial motor nuclei of G93A superoxide dismutase transgenic mice.
Topics: Alanine; Amyotrophic Lateral Sclerosis; Animals; Axotomy; Disease Models, Animal; Facial Nerve; Glyc | 2000 |
CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C.
Topics: Adult; Aged; Alanine; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Asian People; Aspartic | 2000 |