Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.
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Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferaseStructural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptorMice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation CallsComparative pathology of murine mucolipidosis types II and IIICImpaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis.UDP-GlcNAc:Glycoprotein N-acetylglucosamine-1-phosphotransferase mediates the initial step in the formation of the methylphosphomannosyl residues on the high mannose oligosaccharides of Dictyostelium discoideum glycoproteins.A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathologyNeurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.The unique GGA clathrin adaptor of Drosophila melanogaster is not essential.Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.Identification of a fourth mannose 6-phosphate binding site in the cation-independent mannose 6-phosphate receptor.Bacterial expression of the phosphodiester-binding site of the cation-independent mannose 6-phosphate receptor for crystallographic and NMR studiesExploring the elephant: histopathology in high-throughput phenotyping of mutant mice.Genetic approaches to understanding the causes of stutteringHigh-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.A role for inherited metabolic deficits in persistent developmental stutteringImaging and imagination: understanding the endo-lysosomal systemNF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.Carbohydrate recognition by the mannose-6-phosphate receptorsSubcellular trafficking and activity of Hyal-1 and its processed forms in murine macrophages.Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis.Regenerative proliferation of differentiated cells by mTORC1-dependent paligenosis.Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.Dentin Dysplasia in Notum Knockout Mice.GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
P2860
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P2860
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@ast
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@en
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@nl
type
label
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@ast
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@en
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@nl
prefLabel
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@ast
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@en
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@nl
P2093
P356
P1476
Mice lacking alpha/beta subuni ...... n, and secretory cell lesions.
@en
P2093
C Alexander Turner
Claire M Gelfman
Dennis S Rice
Stuart Kornfeld
Tawfik M Issa
Wang-Sik Lee
P304
P356
10.1167/IOVS.07-0452
P407
P50
P577
2007-11-01T00:00:00Z