Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. - Wikidata - awgldk - TriplyDB

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

http://www.wikidata.org/entity/Q37017526

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Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.Golgi post-translational modifications and associated diseases.Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.Extensive mannose phosphorylation on leukemia inhibitory factor (LIF) controls its extracellular levels by multiple mechanisms Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls The glycan-binding properties of the cation-independent mannose 6-phosphate receptor are evolutionary conserved in vertebrates.Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting.Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway.The renal biopsy in the genomic era.Modelling inborn errors of metabolism in zebrafish.Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III.Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.Early characteristic radiographic changes in mucolipidosis II.Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

http://www.wikidata.org/entity/Q37017526

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article científic

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on 16 July 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@en

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@nl

type

label

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@en

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@nl

prefLabel

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@en

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

@nl

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JMG.2009.067736

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Journal of Medical Genetics

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

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J G Leroy

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K Eaves

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M J Friez

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M Kudo

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R E Stevenson

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R J Simensen

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S S Cathey

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T Wood

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P2860

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Comparative pathology of murine mucolipidosis types II and IIIC

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

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38-48

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10.1136/JMG.2009.067736

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