(Q28115600)

3 January 2017

title

Identification of TMEM230 mutations in familial Parkinson's disease (English)

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Transmembrane protein 230

3 January 2017

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GOA release 2020-03-11

author

Tatiana Foroud

24

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Nimrod Miller

Nimrod Miller

5

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Yong-Chao Ma

Yong-Chao Ma

32

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Han-Xiang Deng

Han-Xiang Deng

1

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Sheng Deng

Sheng Deng

9

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Teepu Siddique

Teepu Siddique

34

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Hao Deng

Hao Deng

13

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Joseph Jankovic

25

Joseph Jankovic

1 reference

3 January 2017

Cao Huang

6

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Bernardino F. Ghetti

26

Bernardino Ghetti

1 reference

3 January 2017

17

Piu Chan

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3 January 2017

Yong Shi

2

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3 January 2017

Yi Yang

3

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3 January 2017

Kreshnik B. Ahmeti

4

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3 January 2017

Lijun Cheng

7

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3 January 2017

Hong Zhai

8

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3 January 2017

Karen Nuytemans

10

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3 January 2017

Nicola J. Corbett

11

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3 January 2017

Myung Jong Kim

12

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3 January 2017

Beisha Tang

14

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3 January 2017

Ziquang Yang

15

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3 January 2017

Yanming Xu

16

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3 January 2017

Bo Huang

18

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3 January 2017

Xiao-Ping Gao

19

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3 January 2017

Zhi Song

20

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3 January 2017

Zhenhua Liu

21

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3 January 2017

Faisal Fecto

22

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3 January 2017

Nailah Siddique

23

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3 January 2017

Daniel A. Nicholson

27

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3 January 2017

Dimitri Krainc

28

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3 January 2017

Onur Melen

29

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3 January 2017

Jeffery M. Vance

30

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3 January 2017

Margaret A. Pericak-Vance

31

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3 January 2017

Ali H. Rajput

33

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3 January 2017

language of work or name

English

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publication date

1 July 2016

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3 January 2017

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3 January 2017

volume

48

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3 January 2017

issue

7

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3 January 2017

page(s)

733–739

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Multisystem Lewy body disease and the other parkinsonian disorders

3 January 2017

cites work

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Genetics of Parkinson's disease

21 January 2018

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Genetic animal models of Parkinson's disease

21 January 2018

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

21 January 2018

1 reference

The ubiquitin pathway in Parkinson's disease

21 January 2018

1 reference

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

21 January 2018

1 reference

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

1 reference

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

21 January 2018

1 reference

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

21 January 2018

1 reference

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

21 January 2018

1 reference

Translation initiator EIF4G1 mutations in familial Parkinson disease

21 January 2018

1 reference

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

21 January 2018

1 reference

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

21 January 2018

1 reference

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

21 January 2018

1 reference

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

21 January 2018

1 reference

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

21 January 2018

1 reference

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

21 January 2018

1 reference

Recent advances in the genetics of Parkinson's disease

21 January 2018

1 reference

Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

1 reference

I-TASSER: a unified platform for automated protein structure and function prediction

21 January 2018

1 reference

Template-based protein structure modeling using the RaptorX web server.

21 January 2018

1 reference

The synaptic vesicle cycle

21 January 2018

1 reference

The small GTPase rab5 functions as a regulatory factor in the early endocytic pathway

21 January 2018

1 reference

100 years of Lewy pathology

21 January 2018

1 reference

Alpha-synuclein in Lewy bodies

21 January 2018

1 reference

Huntingtin as an essential integrator of intracellular vesicular trafficking

21 January 2018

1 reference

A selective filter for cytoplasmic transport at the axon initial segment

21 January 2018

1 reference

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication

21 January 2018

1 reference

Genomic investigation of alpha-synuclein multiplication and parkinsonism

21 January 2018

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

DNAJC13 mutations in Parkinson disease

21 January 2018

1 reference

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

21 January 2018

1 reference

LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP.

21 January 2018

1 reference

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family

21 January 2018

1 reference

Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases

21 January 2018

1 reference

Yeast reveal a "druggable" Rsp5/Nedd4 network that ameliorates α-synuclein toxicity in neurons.

21 January 2018

1 reference

Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons

21 January 2018

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

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Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

21 January 2018

1 reference

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 January 2018

1 reference

Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

21 January 2018

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21 January 2018

Key mendelian variants

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https://pubmed.ncbi.nlm.nih.gov/27270108