Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

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Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice

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Q52316439-9218D43C-E909-4376-8407-96939B48A6B5 Q58710894-5530DB28-A4A9-403F-B78F-06B00CB00F19

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Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

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2017 nî lūn-bûn

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2017年学术文章

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Leukoencephalopathy-causing CL ...... nnel function and trafficking.

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Leukoencephalopathy-causing CL ...... nnel function and trafficking.

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Leukoencephalopathy-causing CL ...... nnel function and trafficking.

@en

Leukoencephalopathy-causing CL ...... nnel function and trafficking.

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Leukoencephalopathy-causing CL ...... nnel function and trafficking.

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Leukoencephalopathy-causing CL ...... nnel function and trafficking.

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Leukoencephalopathy-causing CL ...... annel function and trafficking

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Aida Castellanos

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

Tanit Arnedo

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Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

Discovery of CLC transport proteins: cloning, structure, function and pathophysiology

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.

Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.

GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels.

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scholarly article

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10.1113/JP275087

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English

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595

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2017-10-09T00:00:00Z

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28905383

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5685823

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Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

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P2860

P2860

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932