A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease
- PMID: 8990014
- DOI: 10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease
Similar articles
-
Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation.Acta Neuropathol. 2004 Oct;108(4):332-6. doi: 10.1007/s00401-004-0893-4. Epub 2004 Jul 3. Acta Neuropathol. 2004. PMID: 15235802
-
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Dec;6(4):234-8. doi: 10.1080/14660820510044478. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16319027
-
[On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser].No To Shinkei. 1997 Sep;49(9):847-51. No To Shinkei. 1997. PMID: 9311004 Review. Japanese.
-
Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?Amyotroph Lateral Scler. 2011 May;12(3):220-2. doi: 10.3109/17482968.2010.545951. Amyotroph Lateral Scler. 2011. PMID: 21545237
-
Genetically engineered mouse models of neurodegenerative diseases.Nat Neurosci. 2002 Jul;5(7):633-9. doi: 10.1038/nn0702-633. Nat Neurosci. 2002. PMID: 12085093 Review.
Cited by
-
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.Biomolecules. 2023 Jul 19;13(7):1147. doi: 10.3390/biom13071147. Biomolecules. 2023. PMID: 37509182 Free PMC article.
-
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.Antioxidants (Basel). 2022 Apr 22;11(5):815. doi: 10.3390/antiox11050815. Antioxidants (Basel). 2022. PMID: 35624679 Free PMC article.
-
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.Exp Biol Med (Maywood). 2009 Oct;234(10):1140-54. doi: 10.3181/0903-MR-104. Epub 2009 Jul 13. Exp Biol Med (Maywood). 2009. PMID: 19596823 Free PMC article. Review.
-
Amyloid formation by globular proteins under native conditions.Nat Chem Biol. 2009 Jan;5(1):15-22. doi: 10.1038/nchembio.131. Nat Chem Biol. 2009. PMID: 19088715 Review.
-
Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.PLoS Biol. 2008 Jul 29;6(7):e170. doi: 10.1371/journal.pbio.0060170. PLoS Biol. 2008. PMID: 18666828 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases