serine has been researched along with ALS - Amyotrophic Lateral Sclerosis in 48 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Impaired enzymatic activity in D-amino acid oxidase (DAAO) caused by missense mutations has been shown to trigger amyotrophic lateral sclerosis (ALS) through an abnormal accumulation of D-serine in the spinal cord." | 3.96 | Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis. ( Padhi, AK; Zhang, KYJ, 2020) |
| "The substitution of Proline with Serine at residue 56 (P56S) of vesicle-associated membrane protein-associated protein B (VAPB) has been linked to an atypical autosomal dominant form of familial amyotrophic lateral sclerosis 8 (ALS8)." | 3.79 | Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. ( Aliaga, L; Cai, H; Chub, N; Lai, C; Lin, X; O'Donovan, MJ; Shim, H; Sun, L; Xie, C; Yang, WJ; Yu, J, 2013) |
| "Hydroxyl radical, ascorbate free radical, superoxide dismutase (SOD) activities, Cu,Zn-SOD protein, Mn-SOD protein, 8-hydroxy-2' -deoxyguanosine (8-OHdG) and metals were compared in red blood cells (RBC), plasma and/or cerebrospinal fluid (CSF) between patients with sporadic amyotrophic lateral sclerosis (SALS), familial ALS (FALS) showing the Leu126Ser mutation in the Cu, Zn-SOD gene and controls." | 3.73 | Oxidative stress and metal content in blood and cerebrospinal fluid of amyotrophic lateral sclerosis patients with and without a Cu, Zn-superoxide dismutase mutation. ( Hayabara, T; Ihara, Y; Nobukuni, K; Takata, H, 2005) |
| " Based on this small study, L-serine appears to be generally safe for patients with ALS." | 2.84 | Phase I clinical trial of safety of L-serine for ALS patients. ( Banack, SA; Bradley, WG; Cox, PA; Flynn, LE; Forshew, DA; Katz, JS; Levine, TD; Metcalf, JS; Miller, RG; Moore, DH; Saperstein, DS, 2017) |
| " Hyperphosphorylated TDP-43 was found within the inclusion bodies in disease lesions; however, the role of hyperphosphorylation and the toxic species are still ambiguous." | 1.72 | Hyperphosphorylation-Mimetic TDP-43 Drives Amyloid Formation and Possesses Neuronal Toxicity at the Oligomeric Stage. ( Chang, LY; Chen, YR; Chiang, WC; Chou, SC; Fang, YS; Ganesan, K; Huang, SH; Lye, YS; Weng, TY, 2022) |
| " UHPLC-MS/MS was used to confirm BMAA exposures in dosed vervets." | 1.56 | l-Serine Reduces Spinal Cord Pathology in a Vervet Model of Preclinical ALS/MND. ( Banack, SA; Beierschmitt, A; Bradley, WG; Cox, PA; Davis, DA; Garamszegi, SP; Hagan, MJ; Lecusay, PD; Mash, DC; Metcalf, JS; Palmour, RM; Powell, JT, 2020) |
| "Amyotrophic lateral sclerosis (ALS) is a devastating disease characterized by upper and lower motor neuron damage." | 1.36 | Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease. ( Hirayama, T; Ikeda, K; Ito, H; Iwasaki, Y; Kano, O; Kawabe, K; Nakamura, Y; Sobue, G; Takazawa, T; Tanaka, F; Yoshii, Y, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (4.17) | 18.7374 |
| 1990's | 2 (4.17) | 18.2507 |
| 2000's | 16 (33.33) | 29.6817 |
| 2010's | 22 (45.83) | 24.3611 |
| 2020's | 6 (12.50) | 2.80 |
| Authors | Studies |
|---|---|
| Lone, MA | 1 |
| Aaltonen, MJ | 1 |
| Zidell, A | 1 |
| Pedro, HF | 1 |
| Morales Saute, JA | 1 |
| Mathew, S | 1 |
| Mohassel, P | 1 |
| Bönnemann, CG | 1 |
| Shoubridge, EA | 1 |
| Hornemann, T | 1 |
| Chiang, WC | 1 |
| Fang, YS | 1 |
| Lye, YS | 1 |
| Weng, TY | 1 |
| Ganesan, K | 1 |
| Huang, SH | 1 |
| Chang, LY | 1 |
| Chou, SC | 1 |
| Chen, YR | 1 |
| Di Maio, A | 1 |
| Nuzzo, T | 1 |
| Gilio, L | 1 |
| Serra, M | 1 |
| Buttari, F | 1 |
| Errico, F | 1 |
| De Rosa, A | 1 |
| Bassi, MS | 1 |
| Morelli, M | 1 |
| Sasabe, J | 5 |
| Sulzer, D | 1 |
| Carta, M | 1 |
| Centonze, D | 1 |
| Usiello, A | 1 |
| Ye, J | 1 |
| Cheung, J | 1 |
| Gerbino, V | 1 |
| Ahlsén, G | 1 |
| Zimanyi, C | 1 |
| Hirsh, D | 1 |
| Maniatis, T | 1 |
| Davis, DA | 2 |
| Cox, PA | 4 |
| Banack, SA | 3 |
| Lecusay, PD | 1 |
| Garamszegi, SP | 1 |
| Hagan, MJ | 1 |
| Powell, JT | 1 |
| Metcalf, JS | 3 |
| Palmour, RM | 1 |
| Beierschmitt, A | 1 |
| Bradley, WG | 3 |
| Mash, DC | 2 |
| Chen, Q | 1 |
| Konrad, C | 1 |
| Sandhu, D | 1 |
| Roychoudhury, D | 1 |
| Schwartz, BI | 1 |
| Cheng, RR | 1 |
| Bredvik, K | 1 |
| Kawamata, H | 1 |
| Calder, EL | 1 |
| Studer, L | 1 |
| Fischer, SM | 1 |
| Manfredi, G | 1 |
| Gross, SS | 1 |
| Padhi, AK | 1 |
| Zhang, KYJ | 1 |
| Miller, RX | 1 |
| Levine, TD | 2 |
| Stommel, EW | 1 |
| Aliaga, L | 1 |
| Lai, C | 1 |
| Yu, J | 1 |
| Chub, N | 1 |
| Shim, H | 1 |
| Sun, L | 1 |
| Xie, C | 1 |
| Yang, WJ | 1 |
| Lin, X | 1 |
| O'Donovan, MJ | 1 |
| Cai, H | 1 |
| Paul, P | 3 |
| Murphy, T | 1 |
| Oseni, Z | 1 |
| Sivalokanathan, S | 1 |
| de Belleroche, JS | 1 |
| Bardaweel, SK | 1 |
| Alzweiri, M | 1 |
| Ishaqat, AA | 1 |
| de Belleroche, J | 2 |
| Abdelkarim, S | 1 |
| Morgan, S | 1 |
| Plagnol, V | 1 |
| Lu, CH | 1 |
| Adamson, G | 1 |
| Howard, R | 1 |
| Malaspina, A | 1 |
| Orrell, R | 1 |
| Sharma, N | 1 |
| Sidle, K | 1 |
| Clarke, J | 1 |
| Fox, NC | 1 |
| Rossor, MN | 1 |
| Warren, JD | 1 |
| Clark, CN | 1 |
| Rohrer, JD | 1 |
| Fisher, EM | 1 |
| Mead, S | 1 |
| Pittman, A | 1 |
| Fratta, P | 1 |
| Brenner, D | 1 |
| Müller, K | 1 |
| Wieland, T | 1 |
| Weydt, P | 1 |
| Böhm, S | 1 |
| Lulé, D | 1 |
| Hübers, A | 1 |
| Neuwirth, C | 1 |
| Weber, M | 1 |
| Borck, G | 1 |
| Wahlqvist, M | 1 |
| Danzer, KM | 1 |
| Volk, AE | 1 |
| Meitinger, T | 1 |
| Strom, TM | 1 |
| Otto, M | 1 |
| Kassubek, J | 1 |
| Ludolph, AC | 1 |
| Andersen, PM | 1 |
| Weishaupt, JH | 1 |
| Miller, RG | 1 |
| Moore, DH | 1 |
| Saperstein, DS | 1 |
| Flynn, LE | 1 |
| Katz, JS | 1 |
| Forshew, DA | 1 |
| Lin, H | 1 |
| Hu, H | 1 |
| Duan, W | 1 |
| Liu, Y | 2 |
| Tan, G | 1 |
| Li, Z | 1 |
| Deng, B | 1 |
| Song, X | 1 |
| Wang, W | 1 |
| Wen, D | 1 |
| Wang, Y | 1 |
| Li, C | 1 |
| Inukai, Y | 1 |
| Nonaka, T | 2 |
| Arai, T | 2 |
| Yoshida, M | 1 |
| Hashizume, Y | 1 |
| Beach, TG | 1 |
| Buratti, E | 1 |
| Baralle, FE | 1 |
| Akiyama, H | 3 |
| Hisanaga, S | 1 |
| Hasegawa, M | 2 |
| Kametani, F | 1 |
| Suzuki, T | 1 |
| Dohmae, N | 1 |
| Kadoyama, K | 1 |
| Funakoshi, H | 1 |
| Ohya-Shimada, W | 1 |
| Nakamura, T | 2 |
| Matsumoto, K | 1 |
| Matsuyama, S | 1 |
| Takazawa, T | 1 |
| Ikeda, K | 1 |
| Hirayama, T | 1 |
| Kawabe, K | 1 |
| Nakamura, Y | 1 |
| Ito, H | 2 |
| Kano, O | 1 |
| Yoshii, Y | 1 |
| Tanaka, F | 1 |
| Sobue, G | 1 |
| Iwasaki, Y | 1 |
| Nozaki, I | 1 |
| Arai, M | 1 |
| Takahashi, K | 1 |
| Hamaguchi, T | 1 |
| Yoshikawa, H | 1 |
| Muroishi, T | 1 |
| Noguchi-Shinohara, M | 1 |
| Itokawa, M | 1 |
| Kawata, A | 1 |
| Yamada, M | 2 |
| Aiso, S | 5 |
| Brotherton, T | 1 |
| Polak, M | 1 |
| Kelly, C | 1 |
| Birve, A | 1 |
| Andersen, P | 1 |
| Marklund, SL | 1 |
| Glass, JD | 1 |
| Subramony, SH | 1 |
| Ashizawa, T | 1 |
| Langford, L | 1 |
| McKenna, R | 1 |
| Avvaru, B | 1 |
| Siddique, T | 1 |
| Vedanarayanan, V | 1 |
| Thompson, M | 1 |
| Marecki, JC | 1 |
| Marinesco, S | 1 |
| Labrie, V | 1 |
| Roder, JC | 1 |
| Barger, SW | 1 |
| Crow, JP | 1 |
| Miyoshi, Y | 2 |
| Suzuki, M | 2 |
| Mita, M | 1 |
| Konno, R | 2 |
| Matsuoka, M | 3 |
| Hamase, K | 2 |
| Yamanaka, M | 1 |
| Ohide, H | 1 |
| Satoi, H | 1 |
| Tomimoto, H | 1 |
| Ohtani, R | 1 |
| Kitano, T | 1 |
| Kondo, T | 1 |
| Watanabe, M | 1 |
| Oka, N | 1 |
| Akiguchi, I | 1 |
| Furuya, S | 1 |
| Hirabayashi, Y | 1 |
| Okazaki, T | 1 |
| Battistini, S | 1 |
| Giannini, F | 1 |
| Greco, G | 1 |
| Bibbò, G | 1 |
| Ferrera, L | 1 |
| Marini, V | 1 |
| Causarano, R | 1 |
| Casula, M | 1 |
| Lando, G | 1 |
| Patrosso, MC | 1 |
| Caponnetto, C | 1 |
| Origone, P | 1 |
| Marocchi, A | 1 |
| Del Corona, A | 1 |
| Siciliano, G | 2 |
| Carrera, P | 1 |
| Mascia, V | 1 |
| Giagheddu, M | 1 |
| Carcassi, C | 1 |
| Orrù, S | 1 |
| Garrè, C | 1 |
| Penco, S | 1 |
| Ihara, Y | 1 |
| Nobukuni, K | 1 |
| Takata, H | 1 |
| Hayabara, T | 1 |
| Slowik, A | 1 |
| Tomik, B | 1 |
| Wolkow, PP | 1 |
| Partyka, D | 1 |
| Turaj, W | 1 |
| Malecki, MT | 1 |
| Pera, J | 1 |
| Dziedzic, T | 1 |
| Szczudlik, A | 1 |
| Figlewicz, DA | 1 |
| Kanekura, K | 1 |
| Nishimoto, I | 2 |
| Watanabe, S | 1 |
| Nagano, S | 1 |
| Duce, J | 1 |
| Kiaei, M | 1 |
| Li, QX | 1 |
| Tucker, SM | 1 |
| Tiwari, A | 1 |
| Brown, RH | 1 |
| Beal, MF | 1 |
| Hayward, LJ | 1 |
| Culotta, VC | 1 |
| Yoshihara, S | 1 |
| Sakoda, S | 1 |
| Bush, AI | 1 |
| Lobsiger, CS | 1 |
| Boillée, S | 1 |
| Cleveland, DW | 1 |
| Coppedè, F | 1 |
| Mancuso, M | 1 |
| Lo Gerfo, A | 1 |
| Carlesi, C | 1 |
| Piazza, S | 1 |
| Rocchi, A | 1 |
| Petrozzi, L | 1 |
| Nesti, C | 1 |
| Micheli, D | 1 |
| Bacci, A | 1 |
| Migliore, L | 1 |
| Murri, L | 1 |
| Mitne-Neto, M | 1 |
| Ramos, CR | 1 |
| Pimenta, DC | 1 |
| Luz, JS | 1 |
| Nishimura, AL | 1 |
| Gonzales, FA | 1 |
| Oliveira, CC | 1 |
| Zatz, M | 1 |
| Morimoto, N | 1 |
| Nagai, M | 1 |
| Ohta, Y | 1 |
| Miyazaki, K | 1 |
| Kurata, T | 1 |
| Morimoto, M | 1 |
| Murakami, T | 1 |
| Takehisa, Y | 1 |
| Ikeda, Y | 1 |
| Kamiya, T | 1 |
| Abe, K | 1 |
| Chiba, T | 1 |
| Okamoto, K | 1 |
| Irie, T | 1 |
| Watanabe, T | 1 |
| Mikami, H | 1 |
| Yamazaki, T | 1 |
| Oyanagi, K | 1 |
| Ono, S | 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 |
| Rainero, I | 1 |
| Pinessi, L | 1 |
| Tsuda, T | 1 |
| Vignocchi, MG | 1 |
| Vaula, G | 1 |
| Calvi, L | 1 |
| Cerrato, P | 1 |
| Rossi, B | 1 |
| Bergamini, L | 1 |
| McLachlan, DR | 1 |
| Mawal-Dewan, M | 1 |
| Schmidt, ML | 1 |
| Balin, B | 1 |
| Perl, DP | 1 |
| Katunuma, N | 1 |
| Yasogawa, N | 1 |
| Kito, K | 1 |
| Sanada, Y | 1 |
| Kawai, H | 1 |
| Miyoshi, K | 1 |
| Pivovarova, VM | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Tolerability and Efficacy of L-Serine in Patients With Amyotrophic Lateral Sclerosis: A Phase IIa Study[NCT03580616] | Phase 2 | 43 participants (Actual) | Interventional | 2018-10-24 | Terminated (stopped due to Study was terminated by the IRB due to continued noncompliance.) | ||
| Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.[NCT00821132] | 13,521 participants (Actual) | Observational | 1991-01-31 | Completed | |||
| Amyotrophic Lateral Sclerosis and the Innate Immune System[NCT02869048] | 375 participants (Anticipated) | Observational | 2016-06-30 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
6 reviews available for serine and ALS - Amyotrophic Lateral Sclerosis
| Article | Year |
|---|---|
D-Serine in neurobiology: CNS neurotransmission and neuromodulation.
Topics: Alzheimer Disease; Amyotrophic Lateral Sclerosis; Animals; Central Nervous System; Epilepsy; Glutami | 2014 |
Experimental approaches for elucidating co-agonist regulation of NMDA receptor in motor neurons: Therapeutic implications for amyotrophic lateral sclerosis (ALS).
Topics: Amyotrophic Lateral Sclerosis; Animals; D-Amino-Acid Oxidase; Excitatory Amino Acid Agonists; Humans | 2015 |
Aberrant control of motoneuronal excitability in amyotrophic lateral sclerosis: excitatory glutamate/D-serine vs. inhibitory glycine/gamma-aminobutanoic acid (GABA).
Topics: Amyotrophic Lateral Sclerosis; Excitatory Amino Acids; gamma-Aminobutyric Acid; Glutamic Acid; Glyci | 2010 |
[D-serine in the pathogenesis of amyotrophic lateral sclerosis].
Topics: Amyotrophic Lateral Sclerosis; Animals; Cell Death; Humans; Mice; Neurons; Receptors, N-Methyl-D-Asp | 2010 |
The role of D-amino acids in amyotrophic lateral sclerosis pathogenesis: a review.
Topics: Amyotrophic Lateral Sclerosis; Animals; Brain; D-Amino-Acid Oxidase; Disease Progression; Gene Expre | 2012 |
D-Amino acids in the brain and mutant rodents lacking D-amino-acid oxidase activity.
Topics: Amyotrophic Lateral Sclerosis; Animals; Behavior, Animal; Brain; D-Amino-Acid Oxidase; D-Aspartic Ac | 2012 |
2 trials available for serine and ALS - Amyotrophic Lateral Sclerosis
| Article | Year |
|---|---|
Studies of Environmental Risk Factors in Amyotrophic Lateral Sclerosis (ALS) and a Phase I Clinical Trial of L-Serine.
Topics: Amyotrophic Lateral Sclerosis; Environmental Exposure; Female; Humans; Male; Middle Aged; Neuroprote | 2018 |
Phase I clinical trial of safety of L-serine for ALS patients.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amyotrophic Lateral Sclerosis; Disease Progression; Dose | 2017 |
40 other studies available for serine and ALS - Amyotrophic Lateral Sclerosis
| Article | Year |
|---|---|
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Topics: Amyotrophic Lateral Sclerosis; Hereditary Sensory and Autonomic Neuropathies; Humans; Membrane Prote | 2022 |
Hyperphosphorylation-Mimetic TDP-43 Drives Amyloid Formation and Possesses Neuronal Toxicity at the Oligomeric Stage.
Topics: Amyloid; Amyloidogenic Proteins; Amyloidosis; Amyotrophic Lateral Sclerosis; DNA-Binding Proteins; H | 2022 |
Homeostasis of serine enantiomers is disrupted in the post-mortem caudate putamen and cerebrospinal fluid of living Parkinson's disease patients.
Topics: Alzheimer Disease; Amino Acids; Amyotrophic Lateral Sclerosis; Homeostasis; Humans; N-Methylaspartat | 2023 |
Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.
Topics: Amyotrophic Lateral Sclerosis; Cell Cycle Proteins; Enzyme Activation; Humans; Membrane Transport Pr | 2019 |
l-Serine Reduces Spinal Cord Pathology in a Vervet Model of Preclinical ALS/MND.
Topics: Amino Acids, Diamino; Amyotrophic Lateral Sclerosis; Animals; Chlorocebus aethiops; Cyanobacteria To | 2020 |
Accelerated transsulfuration metabolically defines a discrete subclass of amyotrophic lateral sclerosis patients.
Topics: Aged; Amyotrophic Lateral Sclerosis; Case-Control Studies; Cells, Cultured; Cysteine; Female; Fibrob | 2020 |
Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.
Topics: Amyotrophic Lateral Sclerosis; Crystallography, X-Ray; D-Amino-Acid Oxidase; Flavin-Adenine Dinucleo | 2020 |
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Cell Survival; Dendrites; Humans; M | 2013 |
Pathogenic effects of amyotrophic lateral sclerosis-linked mutation in D-amino acid oxidase are mediated by D-serine.
Topics: Amyotrophic Lateral Sclerosis; Animals; Apoptosis; Astrocytes; Autophagy; Cells, Cultured; D-Amino-A | 2014 |
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Topics: Amyotrophic Lateral Sclerosis; Cohort Studies; Frontotemporal Dementia; Genetic Variation; Humans; M | 2016 |
Dietary exposure to an environmental toxin triggers neurofibrillary tangles and amyloid deposits in the brain.
Topics: Amino Acids, Diamino; Amyloid beta-Peptides; Amyotrophic Lateral Sclerosis; Animals; Brain; Chloroce | 2016 |
NEK1 mutations in familial amyotrophic lateral sclerosis.
Topics: Adult; Aged; Amyotrophic Lateral Sclerosis; Brain; Cohort Studies; Family Health; Female; Gene Frequ | 2016 |
ALSUntangled 38: L-serine.
Topics: Amyotrophic Lateral Sclerosis; Clinical Trials as Topic; Humans; Risk; Serine; Treatment Outcome | 2017 |
Intramuscular Delivery of scAAV9-hIGF1 Prolongs Survival in the hSOD1
Topics: Amyotrophic Lateral Sclerosis; Animals; Apoptosis; D-Amino-Acid Oxidase; Dependovirus; Disease Model | 2018 |
Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS.
Topics: Amyotrophic Lateral Sclerosis; Animals; Antibodies, Monoclonal; Brain; Dementia; DNA-Binding Protein | 2008 |
Identification of casein kinase-1 phosphorylation sites on TDP-43.
Topics: Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Brain; Casein Kinase I; Dementia; DNA-Binding Pr | 2009 |
Disease-dependent reciprocal phosphorylation of serine and tyrosine residues of c-Met/HGF receptor contributes disease retardation of a transgenic mouse model of ALS.
Topics: Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Animals; Catalytic Domain; Central Nervous Syste | 2009 |
Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.
Topics: Adult; Amyotrophic Lateral Sclerosis; Fatal Outcome; Female; Glycine; Humans; Male; Motor Neuron Dis | 2010 |
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; DNA-Binding Proteins; Glycine; Humans; Male; | 2010 |
A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
Topics: Adult; Aged; Amyotrophic Lateral Sclerosis; Cysteine; Disulfides; DNA Mutational Analysis; Female; G | 2011 |
Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
Topics: Adult; Amyotrophic Lateral Sclerosis; Family Health; Female; Glycine; Humans; Male; Middle Aged; Mod | 2011 |
Paradoxical roles of serine racemase and D-serine in the G93A mSOD1 mouse model of amyotrophic lateral sclerosis.
Topics: Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Disease Progression; Female; Humans; | 2012 |
D-amino acid oxidase controls motoneuron degeneration through D-serine.
Topics: Amyotrophic Lateral Sclerosis; Animals; Astrocytes; Blotting, Western; Cell Death; Chromatography, H | 2012 |
Astroglial expression of ceramide in Alzheimer's disease brains: a role during neuronal apoptosis.
Topics: Aged; Alzheimer Disease; Amyotrophic Lateral Sclerosis; Animals; Apoptosis; Astrocytes; Cell Line, T | 2005 |
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amyotrophic Lateral Sclerosis; Blotting, Northern; Cohor | 2005 |
Oxidative stress and metal content in blood and cerebrospinal fluid of amyotrophic lateral sclerosis patients with and without a Cu, Zn-superoxide dismutase mutation.
Topics: 8-Hydroxy-2'-Deoxyguanosine; Aged; Amyotrophic Lateral Sclerosis; Case-Control Studies; Deoxyguanosi | 2005 |
Paraoxonase gene polymorphisms and sporadic ALS.
Topics: Adult; Aged; Amyotrophic Lateral Sclerosis; Arginine; Aryldialkylphosphatase; Chi-Square Distributio | 2006 |
Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).
Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Cell Line, Tumor; Endoplasmic Retic | 2006 |
Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis.
Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Animals; Chlorocebus aethiops; Chromatograph | 2007 |
Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons.
Topics: Aging; Amyotrophic Lateral Sclerosis; Animals; Animals, Genetically Modified; Cell Separation; Enzym | 2007 |
Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis.
Topics: Age Factors; Aged; Amino Acid Sequence; Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Cyst | 2007 |
A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins.
Topics: Amino Acid Substitution; Amyotrophic Lateral Sclerosis; Cloning, Molecular; Escherichia coli; Glycer | 2007 |
Increased autophagy in transgenic mice with a G93A mutant SOD1 gene.
Topics: Amyotrophic Lateral Sclerosis; Animals; Autophagy; Central Nervous System; Disease Models, Animal; F | 2007 |
D-serine is a key determinant of glutamate toxicity in amyotrophic lateral sclerosis.
Topics: Amyotrophic Lateral Sclerosis; Animals; Disease Models, Animal; Enzyme Activation; Enzyme Induction; | 2007 |
Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study.
Topics: Adult; Amyotrophic Lateral Sclerosis; Central Nervous System; Family Health; Female; Glycine; Humans | 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 |
SOD1 missense mutation in an Italian family with ALS.
Topics: Adult; Amyotrophic Lateral Sclerosis; Base Sequence; Chromosomes, Human, Pair 21; DNA; DNA Primers; | 1994 |
Identification of phosphorylation sites in PHF-TAU from patients with Guam amyotrophic lateral sclerosis/parkinsonism-dementia complex.
Topics: Aged; Amyotrophic Lateral Sclerosis; Binding Sites, Antibody; Blotting, Western; Brain Chemistry; De | 1996 |
Abnormal expression of a serine protease in human dystrophic muscle.
Topics: Adult; Aged; Amyotrophic Lateral Sclerosis; Child; Child, Preschool; Endopeptidases; Humans; L-Lacta | 1978 |
[Amino acid metabolism in lateral amyotrophic sclerosis].
Topics: Adult; Aged; Amino Acids; Amyotrophic Lateral Sclerosis; Arginine; Female; Humans; Leucine; Male; Mi | 1971 |