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

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma

(2013) Shuang Liu et al.   GENE

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

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

(2012) K. Kollmann et al.   BRAIN

Brain regions and genes affecting limb-clasping responses

(2011) R. Lalonde et al.   BRAIN RESEARCH REVIEWS

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes

(2011) Marielle Boonen et al.   MOLECULAR BIOLOGY OF THE CELL

Ins and Outs of Cerebellar Modules

(2010) Tom J. H. Ruigrok   CEREBELLUM

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

(2009) Sandra Pohl et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis

(2009) Jill M. Weimer et al.   BRAIN RESEARCH

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

Cerebellar cortical organization: a one-map hypothesis

(2009) Richard Apps et al.   NATURE REVIEWS NEUROSCIENCE

Comparative Pathology of Murine Mucolipidosis Types II and IIIC

(2009) P. Vogel et al.   VETERINARY PATHOLOGY

Molecular order in mucolipidosis II and III nomenclature

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

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

(2008) Emanuele Persichetti et al.   HUMAN MUTATION