Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. - Wikidata - awgldk - TriplyDB

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

http://www.wikidata.org/entity/Q34792986

about

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor Knowledge gaps and research recommendations for essential tremor.Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Challenges in essential tremor genetics.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.New roles for mitochondrial proteases in health, ageing and disease.Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.Genetics of movement disorders in the next-generation sequencing era.Essential pitfalls in "essential" tremor.Mitochondrial Quality Control Proteases in Neuronal Welfare.Designer protein disaggregases to counter neurodegenerative disease.Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.Genetic analysis of PITX3 variants in patients with essential tremor.Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Familial Parkinson's Disease-Associated L166P Mutant DJ-1 is Cleaved by Mitochondrial Serine Protease Omi/HtrA2.mPOS is a novel mitochondrial trigger of cell death - implications for neurodegeneration.The genetic architecture of mitochondrial dysfunction in Parkinson's disease.A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.[Genetics of tremor].Delta-amino-levulinic acid dehydratase gene and essential tremor.Mutations in HTRA2 are not a common cause of familial classic ET.Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease.Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population.The Luxembourg Parkinson's Study: A Comprehensive Approach for Stratification and Early Diagnosis Systematic analysis of genetic variants in patients with essential tremor

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P2860

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

http://www.wikidata.org/entity/Q34792986

description

2014 nî lūn-bûn

@nan

2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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type

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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Proceedings of the National Academy of Sciences of the United States of America

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Mitochondrial serine protease ...... tremor and Parkinson disease.

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P2093

Bulent Elibol

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Cenk Akbostanci

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Fatma Nazli Mercan

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Hashem Shahin

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Hilal Unal Gulsuner

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Ming K Lee

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Okan Dogu

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Onur Emre Onat

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Suleyman Gulsuner

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Tayfun Ozcelik

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P2860

A variant in the HS1-BP3 gene is associated with familial essential tremor

Fast and accurate short read alignment with Burrows-Wheeler transform

'Essential tremor' or 'the essential tremors': is this one disease or a family of diseases?

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

Identification of Omi/HtrA2 as a mitochondrial apoptotic serine protease that disrupts inhibitor of apoptosis protein-caspase interaction

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice

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10.1073/PNAS.1419581111

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51

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111

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Haluk Topaloglu

Mary-Claire King

Ayşe B. Tekinay

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268983956

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25422467

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Parkinson's disease

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