A novel -synuclein missense mutation in Parkinson disease
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چکیده
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملa novel missense mutation in clcn1 gene in a family with autosomal recessive congenital myotonia
congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
متن کاملParkinson-causing a-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation
b-Sheet-rich a-synuclein (aS) aggregates characterize Parkinson’s disease (PD). aS was long believed to be a natively unfolded monomer, but recent work suggests it also occurs in a-helix-rich tetramers. Crosslinking traps principally tetrameric aS in intact normal neurons, but not after cell lysis, suggesting a dynamic equilibrium. Here we show that freshly biopsied normal human brain contains ...
متن کاملParkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation
Citation Dettmer, Ulf, Andrew J. Newman, Frank Soldner, Eric S. Luth, Nora C. Kim, Victoria E. von Saucken, John B. Sanderson, Rudolf Jaenisch, Tim Bartels, and Dennis Selkoe. 2015. “Parkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation.” Nature Communications 6 (1): 7314. doi:10.1038/ncomms8314. http://dx.doi.org/10.1038/ncomm...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31828727ba