Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. - Wikidata - awgldk - TriplyDB

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

http://www.wikidata.org/entity/Q41376427

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c-Src control of chloride channel support for osteoclast HCl transport and bone resorption Molecular characterisation of 'transmembrane protein 192' (TMEM192), a novel protein of the lysosomal membrane A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.A model of lysosomal pH regulation Diversity of Cl(-) channels The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit Regulation of lysosomal ion homeostasis by channels and transporters Discovery of CLC transport proteins: cloning, structure, function and pathophysiology Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Fifteen-year quest for microphthalmia-associated transcription factor target genes The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor Characterization of two-pore channel 2 (TPCN2)-mediated Ca2+ currents in isolated lysosomes Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7 Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.ClC-3 chloride channel mediates the role of parathyroid hormone [1-34] on osteogenic differentiation of osteoblasts Aberrant Ca2+ handling in lysosomal storage disorders Chloride channels: often enigmatic, rarely predictable.A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots Expression and localization of CLC chloride transport proteins in the avian retina.Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation.Chloride channels of intracellular membranes Signals from the lysosome: a control centre for cellular clearance and energy metabolism.Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.An optical assay of the transport activity of ClC-7.Atp6v0d2 is an essential component of the osteoclast-specific proton pump that mediates extracellular acidification in bone resorption.Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes.Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7 Chloride channel diseases resulting from impaired transepithelial transport or vesicular function Channel or transporter? The CLC saga continues.ClC-7 Deficiency Impairs Tooth Development and Eruption

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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

http://www.wikidata.org/entity/Q41376427

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Loss of the chloride channel C ...... disease and neurodegeneration.

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The EMBO Journal

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Loss of the chloride channel C ...... disease and neurodegeneration.

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Anja Schmitt

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Dagmar Kasper

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Klaus Ruether

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Michaela Schweizer

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Olaf Scheel

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Oliver Zeitz

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Robert Steinfeld

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Rosa Planells-Cases

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Uwe Kornak

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P2860

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

A common molecular basis for three inherited kidney stone diseases

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

Gephyrin interacts with Dynein light chains 1 and 2, components of motor protein complexes

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

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15706348

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