A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology

(2016) Heather Flanagan-Steet et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in theGUSBGene

(2015) P. Wang et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

(2014) Leigh Paton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

(2014) Ana Fernández-Marmiesse et al.   Orphanet Journal of Rare Diseases

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ

(2014) Rachel A. Idol et al.   PLoS One

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

(2012) K. Kollmann et al.   BRAIN

Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II

(2011) A. C. Petrey et al.   Disease Models & Mechanisms

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

(2010) Changsoo Kang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III

(2009) Maryam Zarghooni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Altered Chondrocyte Differentiation and Extracellular Matrix Homeostasis in a Zebrafish Model for Mucolipidosis II

(2009) Heather Flanagan-Steet et al.   AMERICAN JOURNAL OF PATHOLOGY

Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

(2009) M Encarnação et al.   CLINICAL GENETICS

Functions of the α, β, and γ Subunits of UDP-GlcNAc:Lysosomal EnzymeN-Acetylglucosamine-1-phosphotransferase

(2009) Yi Qian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) S. S. Cathey et al.   JOURNAL OF MEDICAL GENETICS

Molecular order in mucolipidosis II and III nomenclature

(2008) Sara S. Cathey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular analysis of the GlcNac-1-phosphotransferase

(2008) T. Braulke et al.   JOURNAL OF INHERITED METABOLIC DISEASE