Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV - Wikidata - wikimedia - TriplyDB

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

http://www.wikidata.org/entity/Q24655743

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Autophagy in lysosomal storage disorders International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family The role of TRPMLs in endolysosomal trafficking and function Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome Mucolipidosis type IV: an update Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1 Macroautophagy is defective in mucolipin-1-deficient mouse neurons Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.Mucolipins: Intracellular TRPML1-3 channels TRP channels of intracellular membranes Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.Lysosomal physiology.Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.TRPML: transporters of metals in lysosomes essential for cell survival?Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.CRYβA3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation.Role of TRP channels in the regulation of the endosomal pathway.The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase.Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.Fig4 deficiency: a newly emerged lysosomal storage disorder?Lysosomal Storage Diseases-Regulating Neurodegeneration.Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter Monitoring autophagy in lysosomal storage disorders TRPMLs: in sickness and in health.A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis Metabolic adaptations to interrupted glycosaminoglycan recycling.Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation.Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.The role of transient receptor potential cation channels in Ca2+ signaling TRP channels.PIKfyve activity regulates reformation of terminal storage lysosomes from endolysosomes.N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation.Mucolipidosis type IV protein TRPML1-dependent lysosome formation.Regulation of Transporters and Channels by Membrane-Trafficking Complexes in Epithelial Cells.

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P2860

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

http://www.wikidata.org/entity/Q24655743

description

2007 nî lūn-bûn

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2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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Neurologic, gastric, and optha ...... model of mucolipidosis type IV

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Neurologic, gastric, and optha ...... model of mucolipidosis type IV

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Neurologic, gastric, and optha ...... model of mucolipidosis type IV

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Neurologic, gastric, and optha ...... model of mucolipidosis type IV

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Andrea Varro

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Bhuvarahamurthy Venugopal

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James Pickel

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Marsha F Browning

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Nanda Nanthakumar

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Norman Michaud

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Steven U Walkley

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Susan A Slaugenhaupt

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P2860

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease

Constitutive achlorhydria in mucolipidosis type IV

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

The neurogenetics of mucolipidosis type IV

Cell biology of acid secretion by the parietal cell

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

Transient receptor potential cation channels in disease

Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent

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1070-83

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Cyntia Curcio-Morelli

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5921407

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