A novel missense mutation of CMT2P alters transcription machinery.

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A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

P2860

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P2860

A novel missense mutation of CMT2P alters transcription machinery.

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http://www.wikidata.org/entity/Q38746997

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

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2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

@zh-cn

name

A novel missense mutation of CMT2P alters transcription machinery.

@en

type

Item

label

A novel missense mutation of CMT2P alters transcription machinery.

@en

prefLabel

A novel missense mutation of CMT2P alters transcription machinery.

@en

P1476

A novel missense mutation of CMT2P alters transcription machinery.

@en

P2093

Bo Hu

http://www.w3.org/2001/XMLSchema#string

Jun Li

http://www.w3.org/2001/XMLSchema#string

Sezgi Arpag

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P2860

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease

Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding

A small ubiquitin-related polypeptide involved in targeting RanGAP1 to nuclear pore complex protein RanBP2

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease

Shotgun identification of protein modifications from protein complexes and lens tissue

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

RING-type E3 ligases: master manipulators of E2 ubiquitin-conjugating enzymes and ubiquitination

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

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834-845

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scholarly article

P356

10.1002/ANA.24776

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P478

http://www.w3.org/2001/XMLSchema#string

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Stephan Züchner

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2016-09-12T00:00:00Z

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27615052

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P921

Fused in sarcoma

P932

5177458

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A novel missense mutation of CMT2P alters transcription machinery.

about

P2860

P2860

A novel missense mutation of CMT2P alters transcription machinery.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932