Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

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Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.

P2860

Q47595136-B56DC436-6C3D-43A0-83C9-B8AF8564041C

P2860

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

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http://www.wikidata.org/entity/Q36065993

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

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

@zh

2016年论文

@zh-cn

name

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@ast

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@en

type

Item

label

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@ast

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@en

prefLabel

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@ast

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

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P1476

Aberrant trafficking of a Leu8 ...... t Charcot-Marie-Tooth disease.

@en

P2093

Hai Chen

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

Lauren Previch

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

Li Di

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

Wei Wang

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

Yuwei Da

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

Zhiguo Chen

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

Zhongfeng Liu

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

P2860

Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein

Connexin mutations in X-linked Charcot-Marie-Tooth disease

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Functional gap junctions in the schwann cell myelin sheath.

Identification of amino acid residues lining the pore of a gap junction channel

Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins

P304

897-902

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P31

scholarly article

P356

10.1080/01616412.2016.1204494

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P433

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

P478

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

P577

2016-07-01T00:00:00Z

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P698

27367520

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

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

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P2860

P2860

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

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P1433

P1476

P2093

P2860

P304

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P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698