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Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice

Journal of lipid research, 2005-04, Vol.46 (4), p.744-751

2005

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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

Journal of neurology, 2009-11, Vol.256 (11), p.1911-1915

2009

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Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

Genes & development, 1996-12, Vol.10 (24), p.3156-3169

1996

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E3 Ubiquitin Ligases as Regulators of Membrane Protein Trafficking and Degradation

Traffic (Copenhagen, Denmark), 2005-06, Vol.6 (6), p.429-441

2005

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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

Human mutation, 2004-10, Vol.24 (4), p.352-352

2004

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Gangliosides as apoptotic signals in ER stress response

Cell death and differentiation, 2006-03, Vol.13 (3), p.404-414

2006

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New mutations in two Dutch patients with early infantile galactosialidosis

Molecular genetics and metabolism, 2003-03, Vol.78 (3), p.222-228

2003

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β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

Human mutation, 2000-01, Vol.15 (4), p.354-366

2000

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Susceptibility to asthma phenotype in human airway smooth muscle mannose receptor (huASM-MR) transgenic mice

Journal of allergy and clinical immunology, 2004-02, Vol.113 (2), p.S186-S186

2004

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Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery

Human molecular genetics, 2006-04, Vol.15 (7), p.1225-1236

2006

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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

Human mutation, 2004-12, Vol.24 (6), p.536-537

2004

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Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor

The EMBO journal, 2003-01, Vol.22 (1), p.47-59

2003

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Molecular Defect in Combined β -galactosidase and Neuraminidase Deficiency in Man

Proceedings of the National Academy of Sciences - PNAS, 1982-08, Vol.79 (15), p.4535-4539

1982

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Expression specificity of GFAP transgenes

Neurochemical research, 2004-11, Vol.29 (11), p.2075-2093

2004

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Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein

The Journal of biological chemistry, 1989-12, Vol.264 (34), p.20655-20663

1989

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N‐butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

Journal of neurochemistry, 2004-05, Vol.89 (3), p.645-653

2004

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Lack of PPCA Expression only Partially Coincides with Lysosomal Storage in Galactosialidosis Mice: Indirect Evidence for Spatial Requirement of the Catalytic Rather than the Protective Function of PPCA

Human molecular genetics, 1998-10, Vol.7 (11), p.1787-1794

1998

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A Brazilian galactosialidosis patient given renal transplantation: A case report

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.205-208

2008

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P5.66 The role of Neuraminidase 1 on skeletal muscle regeneration

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.744-744

2011

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Ozz-E3, A Muscle-Specific Ubiquitin Ligase, Regulates β-Catenin Degradation during Myogenesis

Developmental cell, 2004-02, Vol.6 (2), p.269-282

2004

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Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

Human molecular genetics, 2002-06, Vol.11 (12), p.1455-1464

2002

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Mouse "protective protein". cDNA cloning, sequence comparison, and expression

The Journal of biological chemistry, 1990-03, Vol.265 (8), p.4678-4684

1990

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Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A

The Journal of biological chemistry, 2000-12, Vol.275 (48), p.37657-37663

2000

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Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum

The Journal of biological chemistry, 1992-09, Vol.267 (25), p.17949-17956

1992

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Identification and in Vitro Reconstitution of Lysosomal Neuraminidase from Human Placenta

The Journal of biological chemistry, 1989-01, Vol.264 (2), p.1317-1322

1989

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Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

E3 Ubiquitin Ligases as Regulators of Membrane Protein Trafficking and Degradation

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

Gangliosides as apoptotic signals in ER stress response

New mutations in two Dutch patients with early infantile galactosialidosis

β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

Susceptibility to asthma phenotype in human airway smooth muscle mannose receptor (huASM-MR) transgenic mice

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery

Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor

Molecular Defect in Combined β -galactosidase and Neuraminidase Deficiency in Man

Expression specificity of GFAP transgenes

Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein

N‐butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

Lack of PPCA Expression only Partially Coincides with Lysosomal Storage in Galactosialidosis Mice: Indirect Evidence for Spatial Requirement of the Catalytic Rather than the Protective Function of PPCA

A Brazilian galactosialidosis patient given renal transplantation: A case report

P5.66 The role of Neuraminidase 1 on skeletal muscle regeneration

Ozz-E3, A Muscle-Specific Ubiquitin Ligase, Regulates β-Catenin Degradation during Myogenesis

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

Mouse "protective protein". cDNA cloning, sequence comparison, and expression

Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A

Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum

Identification and in Vitro Reconstitution of Lysosomal Neuraminidase from Human Placenta

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