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Biglycan Is Required for Adaptive Remodeling After Myocardial Infarction

Circulation (New York, N.Y.), 2008-03, Vol.117 (10), p.1269-1276

2008

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Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

Nature (London), 2000-08, Vol.406 (6798), p.902-906

2000

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Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution

Acta neuropathologica, 2004-10, Vol.108 (4), p.261-271

2004

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Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice

Development (Cambridge), 2001-12, Vol.128 (23), p.4899-4910

2001

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Disease model: LAMP-2 enlightens Danon disease

Trends in Molecular Medicine, 2001, Vol.7 (1), p.37-39

2001

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Normal Lysosomal Morphology and Function in LAMP-1-deficient Mice

The Journal of biological chemistry, 1999-04, Vol.274 (18), p.12692-12701

1999

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LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice

Human molecular genetics, 2003-03, Vol.12 (6), p.631-646

2003

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Phenotype of Arylsulfatase A-Deficient Mice: Relationship to Human Metachromatic Leukodystrophy

Proceedings of the National Academy of Sciences - PNAS, 1996-12, Vol.93 (25), p.14821-14826

1996

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Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations

Gene therapy, 2002, Vol.9 (1), p.53-63

2002

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Obestatin, a Peptide Encoded by the Ghrelin Gene, Opposes Ghrelin's Effects on Food Intake

Science (American Association for the Advancement of Science), 2005-11, Vol.310 (5750), p.996-999

2005

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Metachromatic leukodystrophy: Molecular genetics and an animal model

Journal of inherited metabolic disease, 1998-08, Vol.21 (5), p.564-574

1998

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Bone marrow stem cell gene therapy of arylsulfatase a-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells

Human gene therapy, 2001-06, Vol.12 (9), p.1021-1033

2001

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Targeted Disruption of the Lysosomal α-Mannosidase Gene Results in Mice Resembling a Mild form of Human α-Mannosidosis

Human molecular genetics, 1999-08, Vol.8 (8), p.1365-1372

1999

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Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

American journal of human genetics, 2008-03, Vol.82 (3), p.673-684

2008

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Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in health and disease, 2006-08, Vol.5 (1), p.21-21

2006

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Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase

Histochemistry and cell biology, 2001-08, Vol.116 (2), p.161-169

2001

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Metachromatic leukodystrophy: consequences of sulphatide accumulation

Acta Paediatrica, 2003-12, Vol.92 (s443), p.74-79

2003

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Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse

Acta neuropathologica, 2001-05, Vol.101 (5), p.491-498

2001

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Sulfatide storage in visceral organs of arylsulfatase A-deficient mice

Virchows Archiv : an international journal of pathology, 2001-07, Vol.439 (1), p.90-96

2001

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Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts

Molecular biology of the cell, 2004-07, Vol.15 (7), p.3132-3145

2004

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Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

Human molecular genetics, 2005-05, Vol.14 (9), p.1139-1152

2005

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The Intramembrane Protease SPPL2A Is Critical for Tooth Enamel Formation

Journal of bone and mineral research, 2013-07, Vol.28 (7), p.1622-1630

2013

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Mice Deficient in Lysosomal Acid Phosphatase Develop Lysosomal Storage in the Kidney and Central Nervous System

The Journal of biological chemistry, 1997-07, Vol.272 (30), p.18628-18635

1997

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Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice

Brain research, 1999-11, Vol.847 (2), p.352-356

1999

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Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study

Human molecular genetics, 2004-09, Vol.13 (18), p.1979-1988

2004

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Biglycan Is Required for Adaptive Remodeling After Myocardial Infarction

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution

Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice

Disease model: LAMP-2 enlightens Danon disease

Normal Lysosomal Morphology and Function in LAMP-1-deficient Mice

LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice

Phenotype of Arylsulfatase A-Deficient Mice: Relationship to Human Metachromatic Leukodystrophy

Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations

Obestatin, a Peptide Encoded by the Ghrelin Gene, Opposes Ghrelin's Effects on Food Intake

Metachromatic leukodystrophy: Molecular genetics and an animal model

Bone marrow stem cell gene therapy of arylsulfatase a-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells

Targeted Disruption of the Lysosomal α-Mannosidase Gene Results in Mice Resembling a Mild form of Human α-Mannosidosis

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase

Metachromatic leukodystrophy: consequences of sulphatide accumulation

Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse

Sulfatide storage in visceral organs of arylsulfatase A-deficient mice

Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

The Intramembrane Protease SPPL2A Is Critical for Tooth Enamel Formation

Mice Deficient in Lysosomal Acid Phosphatase Develop Lysosomal Storage in the Kidney and Central Nervous System

Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice

Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study

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