Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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P1476

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

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P2093

Alexia Kagiava

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Irene Sargiannidou

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Kleopas A Kleopa

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Margarita Olympiou

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Styliana Kyriakoudi

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P2860

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

Life cycle of connexins in health and disease

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

Defining a minimal motif required to prevent connexin oligomerization in the endoplasmic reticulum

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

Biosynthesis and structural composition of gap junction intercellular membrane channels.

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

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

Allele-specific silencing of dominant disease genes.

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.

P304

1622-1633

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P31

scholarly article

P356

10.1093/HMG/DDX064

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P433

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P478

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P577

2017-02-21T00:00:00Z

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P698

28334782

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