Page last updated: 2024-08-17

lysine and Charcot-Marie-Tooth Disease

lysine has been researched along with Charcot-Marie-Tooth Disease in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's8 (57.14)29.6817
2010's6 (42.86)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Dougan, G; Douse, CH; Kingston, RE; Lehner, PJ; Modis, Y; Roberts, RC; Tchasovnikarova, IA; Timms, RT1
A, M; Chakrabarti, R; Fung, TS; Higgs, HN; Kettenbach, AN1
Choi, BO; Chung, KW; Kim, YJ; Koo, H; Nakhro, K; Park, JM; Yoo, JH; Yoon, BR1
Berciano, J; De Vriendt, E; Gallardo, E; García, A; Infante, J; Jordanova, A; Peeters, K; Pelayo-Negro, AL1
Batish, SD; Biesecker, LG; Blouin, R; Brandt, C; Coppola, G; Ferguson, CJ; Grant, AE; Hoffman, S; Lenk, GM; Meisler, MH; Nicholson, G; Reddel, SW; Scheuerle, A; Simpson, E; Towne, CF; Yasick, M1
Latour, P; Longy-Boursier, M; Mercié, P; Ribeiro, E; Saint-Lézer, A; Solé, G1
Drac, H; Hausmanowa-Petrusewicz, I; Jedrzejowska, H; Kochański, A1
Schröder, JM; Sindern, E; Vorgerd, M; Züchner, S1
Bierhaus, A; Erwin, S; Haslbeck, KM; Heuss, D; Kirchner, A; Nawroth, P; Neundörfer, B; Schlötzer, U1
Bierhaus, A; Haslbeck, KM; Haslbeck, M; Heuss, D; Nawroth, P; Neundörfer, B; Schleicher, E1
Baas, F; Bienfait, HM; de Visser, M; Meggouh, F; Weterman, MA1
Butinar, D; Christodoulou, K; Koutsou, P; Starr, A; Zidar, J1
Alifano, P; Bucci, C; De Luca, A; Progida, C; Spinosa, MR1
Friess, U; Haslbeck, KM; Heuss, D; Kirchner, A; Neundörfer, B; Schleicher, ED1

Other Studies

14 other study(ies) available for lysine and Charcot-Marie-Tooth Disease

ArticleYear
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.
    Nature genetics, 2017, Volume: 49, Issue:7

    Topics: Adenosine Triphosphatases; Charcot-Marie-Tooth Disease; Chromatin Assembly and Disassembly; CRISPR-Cas Systems; Epigenetic Repression; Gene Silencing; HeLa Cells; Heterochromatin; Histone Code; Histone-Lysine N-Methyltransferase; Histones; Humans; Lysine; Methylation; Multiprotein Complexes; Mutation, Missense; Neurons; Protein Domains; Protein Interaction Mapping; Protein Methyltransferases; Protein Processing, Post-Translational; Transcription Factors; Transgenes

2017
A complex containing lysine-acetylated actin inhibits the formin INF2.
    Nature cell biology, 2019, Volume: 21, Issue:5

    Topics: Actins; Animals; Brain; Carrier Proteins; Charcot-Marie-Tooth Disease; Formins; Glomerulosclerosis, Focal Segmental; Histone Deacetylase 6; Humans; Lysine; Mice; Microfilament Proteins; Mutation; Protein Binding; Protein Domains

2019
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:8

    Topics: Adult; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Heat-Shock Proteins; Humans; Lysine; Magnetic Resonance Imaging; Male; Median Nerve; Muscle, Skeletal; Mutation; Neural Conduction; Republic of Korea; Sural Nerve; Threonine

2013
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
    Journal of neurology, 2015, Volume: 262, Issue:5

    Topics: Action Potentials; Adult; Charcot-Marie-Tooth Disease; Creatine Kinase; DNA Mutational Analysis; Electrophysiology; Evoked Potentials; Family Health; Female; Follow-Up Studies; Glutamine; Humans; Lysine; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Neural Conduction; Neurofilament Proteins; Tomography, X-Ray Computed

2015
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
    Brain : a journal of neurology, 2011, Volume: 134, Issue:Pt 7

    Topics: Adult; Australia; Charcot-Marie-Tooth Disease; Child; Child, Preschool; Exons; Family Health; Female; Flavoproteins; Foot Deformities; Genotype; Glutamic Acid; Humans; Lysine; Male; Middle Aged; Models, Molecular; Muscle Weakness; Mutation; Neural Conduction; Phenotype; Phosphoric Monoester Hydrolases; Sural Nerve

2011
[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease].
    Revue neurologique, 2012, Volume: 168, Issue:4

    Topics: Charcot-Marie-Tooth Disease; Dynamin II; Genetic Association Studies; Humans; Lysine; Male; Middle Aged; Mutation; Neutropenia; Sequence Deletion

2012
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
    European journal of neurology, 2003, Volume: 10, Issue:5

    Topics: Asparagine; Charcot-Marie-Tooth Disease; Child, Preschool; Female; Humans; Lysine; Male; Mutation; Myelin P0 Protein; Myelin Sheath; Pedigree

2003
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:2

    Topics: Adult; Aged; Aged, 80 and over; Axons; Charcot-Marie-Tooth Disease; Deafness; DNA Mutational Analysis; Female; Genetic Testing; Glutamic Acid; Humans; Lysine; Male; Microscopy, Electron; Middle Aged; Muscle Weakness; Mutation; Neural Conduction; Neurofilament Proteins; Pedigree; Peripheral Nerves; Phenotype; Protein Structure, Tertiary; Sural Nerve

2004
Receptor for advanced glycation endproduct (RAGE)-mediated nuclear factor-kappaB activation in vasculitic neuropathy.
    Muscle & nerve, 2004, Volume: 29, Issue:6

    Topics: Adult; Aged; Charcot-Marie-Tooth Disease; Humans; Immunohistochemistry; Interleukin-6; Lysine; Middle Aged; NF-kappa B; Oxidative Stress; Peripheral Nervous System Diseases; Receptor for Advanced Glycation End Products; Receptors, Immunologic; Sural Nerve; Vasculitis

2004
The AGE/RAGE/NF-(kappa)B pathway may contribute to the pathogenesis of polyneuropathy in impaired glucose tolerance (IGT).
    Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association, 2005, Volume: 113, Issue:5

    Topics: Aged; Biopsy; Charcot-Marie-Tooth Disease; Diabetes Mellitus, Type 2; Diabetic Neuropathies; Glucose Intolerance; Glycation End Products, Advanced; Humans; Lysine; Middle Aged; NF-kappa B; Receptor for Advanced Glycation End Products; Receptors, Immunologic; Sural Nerve

2005
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
    Neurology, 2006, Oct-24, Volume: 67, Issue:8

    Topics: Acyltransferases; Adult; Asparagine; Charcot-Marie-Tooth Disease; Cytosine; Foot Ulcer; Genetic Variation; Guanine; Heterozygote; Humans; Lysine; Male; Mutation, Missense; Pedigree; rab GTP-Binding Proteins; rab7 GTP-Binding Proteins; Serine C-Palmitoyltransferase

2006
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
    Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2008, Volume: 119, Issue:2

    Topics: Acoustic Stimulation; Adolescent; Adult; Aged; Charcot-Marie-Tooth Disease; Evoked Potentials, Auditory, Brain Stem; Family Health; Female; Functional Laterality; Glutamic Acid; Humans; Lysine; Male; Middle Aged; Neurofilament Proteins; Point Mutation; Proline; Reaction Time; Serine; Vestibulocochlear Nerve

2008
Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.
    Biochemical and biophysical research communications, 2008, Jul-25, Volume: 372, Issue:2

    Topics: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Asparagine; Cell Cycle Proteins; Charcot-Marie-Tooth Disease; Conserved Sequence; ErbB Receptors; Guanosine Triphosphate; Humans; Hydrolysis; Lysine; Mutation, Missense; Nuclear Proteins; rab GTP-Binding Proteins; rab7 GTP-Binding Proteins; RNA Interference

2008
N(epsilon)-Carboxymethyllysine in diabetic and non-diabetic polyneuropathies.
    Acta neuropathologica, 2002, Volume: 104, Issue:1

    Topics: Adult; Aged; Biopsy; Blotting, Western; Charcot-Marie-Tooth Disease; Diabetic Neuropathies; Female; Humans; Immunohistochemistry; Lysine; Male; Middle Aged; Oxidative Stress; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Sural Nerve

2002