NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of NIPA1 have been associated with a higher susceptibility to amyotrophic lateral sclerosis (ALS). The exact role of genetic variation in NIPA1 in...

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Veröffentlicht in:	Human molecular genetics 2012-06, Vol.21 (11), p.2497-2502
Hauptverfasser:	BLAUW, Hylke M, RHEENEN, Wouter Van, CUPPEN, Edwin, PASTERKAMP, R. Jeroen, ROBBERECHT, Wim, LUDOLPH, Albert C, VELDINK, Jan H, DEN BERG, Leonard H. Van, KOPPERS, Max, VAN DAMME, Philip, WAIBEL, Stefan, LEMMENS, Robin, VUGHT, Paul W. J. Van, MEYER, Thomas, SCHULTE, Claudia, GASSER, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Alleles Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Biological and medical sciences Coding Data processing Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Exons Fundamental and applied biological sciences. Psychology Genetic diversity Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genotype Genotypes Hereditary spastic parplegia Humans Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Molecular and cellular biology Motor neurons Mutation Neurodegenerative diseases Neurology Peptides - chemistry polyalanine Risk factors Survival
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