Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
about
PDZ domain protein GIPC interacts with the cytoplasmic tail of melanosomal membrane protein gp75 (tyrosinase-related protein-1)Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITFDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyTyrosinase degradation is prevented when EDEM1 lacks the intrinsically disordered regionNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneThe etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinaseThe molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentationMolecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterationsMelanocytes and pigmentation are affected in dopachrome tautomerase knockout miceOculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Photochemistry. Chemiexcitation of melanin derivatives induces DNA photoproducts long after UV exposureProper folding and endoplasmic reticulum to golgi transport of tyrosinase are induced by its substrates, DOPA and tyrosine.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaDelineating the genetic heterogeneity of OCA in Hungarian patients.Tyrosinase inhibitory activity of a glucosylated hydroxystilbene in mouse melan-a melanocytes.Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traitsA conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.Traffic jam: a compendium of human diseases that affect intracellular transport processes.Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)A nonsense mutation in the tyrosinase gene causes albinism in water buffaloReduced glutathione disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization.Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinismMechanisms of protein delivery to melanosomes in pigment cells.5'-adenosine monophosphate mediated cooling treatment enhances ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.Tyrosinase maturation through the mammalian secretory pathway: bringing color to life.Diacylglycerol kinase regulates tyrosinase expression and function in human melanocytes.Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationCln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Essential role of the molecular chaperone gp96 in regulating melanogenesis.Role of N-linked oligosaccharides in the biosynthetic processing of the cystic fibrosis membrane conductance regulator.Tyrosinase maturation and oligomerization in the endoplasmic reticulum require a melanocyte-specific factor.STX13 regulates cargo delivery from recycling endosomes during melanosome biogenesis.Pink-eyed dilution protein controls the processing of tyrosinase.Intracellular composition of fatty acid affects the processing and function of tyrosinase through the ubiquitin-proteasome pathway.The cotranslational maturation of the type I membrane glycoprotein tyrosinase: the heat shock protein 70 system hands off to the lectin-based chaperone system.Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.
P2860
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P2860
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@ast
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en-gb
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@nl
type
label
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@ast
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en-gb
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@nl
prefLabel
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@ast
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en-gb
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@nl
P2093
P2860
P356
P1476
Endoplasmic reticulum retentio ...... h tyrosinase-negative albinism
@en
P2093
P2860
P304
P356
10.1073/PNAS.97.11.5889
P407
P577
2000-05-23T00:00:00Z