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Autophagy in lysosomal storage disordersNeurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IVThe role of TRPMLs in endolysosomal trafficking and functionPermeation, regulation and control of expression of TRP channels by trace metal ionsMucolipidosis type IV: an updateIsolated ocular disease is associated with decreased mucolipin-1 channel conductanceThe type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channelSystematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1Lysosomal trafficking functions of mucolipin-1 in murine macrophagesActivating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.Constitutive activity of the human TRPML2 channel induces cell degenerationMucolipins: Intracellular TRPML1-3 channelsQuantitative neuroimaging in mucolipidosis type IV.The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathwayBehavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomesLAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.Differential mechanisms of action of the mucolipin synthetic agonist, ML-SA1, on insect TRPML and mammalian TRPML1.Molecular and comparative genetics of mental retardation.The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.Role of TRP channels in the regulation of the endosomal pathway.Novel Role of TRPML2 in the Regulation of the Innate Immune ResponseAcidic Ca2+ stores in neurodegeneration.Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV.Lysosomal Storage Diseases-Regulating Neurodegeneration.Autophagic dysfunction in mucolipidosis type IV patients.Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporterMucolipidosis type IV: the importance of functional lysosomes for efficient autophagyTRPMLs: in sickness and in health.Evidence that transport of iron from the lysosome to the cytosol in African trypanosomes is mediated by a mucolipin orthologue.Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.Iron transport machinery of human cells: players and their interactions.Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The neurogenetics of mucolipidosis type IV
@ast
The neurogenetics of mucolipidosis type IV
@en
The neurogenetics of mucolipidosis type IV
@nl
type
label
The neurogenetics of mucolipidosis type IV
@ast
The neurogenetics of mucolipidosis type IV
@en
The neurogenetics of mucolipidosis type IV
@nl
prefLabel
The neurogenetics of mucolipidosis type IV
@ast
The neurogenetics of mucolipidosis type IV
@en
The neurogenetics of mucolipidosis type IV
@nl
P2093
P356
P1433
P1476
The neurogenetics of mucolipidosis type IV
@en
P2093
B I Solomon
C R Kaneski
G Altarescu
N J Patronas
P304
P356
10.1212/WNL.59.3.306
P407
P577
2002-08-13T00:00:00Z