Department of Genetics
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The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.
Proceedings of the National Academy of Sciences of the United States of America Jan, 1998 | Pubmed ID: 9435242
Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter.
Proceedings of the National Academy of Sciences of the United States of America Dec, 1998 | Pubmed ID: 9843984
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells.
Blood May, 2002 | Pubmed ID: 11964280
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.
Human molecular genetics Jun, 2002 | Pubmed ID: 12023988
Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.
The EMBO journal Jan, 2003 | Pubmed ID: 12505983
Increase in macrophages in the testis of cathepsin a deficient mice suggests an important role for these cells in the interstitial space of this tissue.
Molecular reproduction and development Mar, 2003 | Pubmed ID: 12548663
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Human genetics Jul, 2003 | Pubmed ID: 12644936
Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice.
Molecular reproduction and development Dec, 2003 | Pubmed ID: 14579412
Gene transfer strategies for correction of lysosomal storage disorders.
Acta haematologica , 2003 | Pubmed ID: 14583667
Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis.
Developmental cell Feb, 2004 | Pubmed ID: 14960280
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology Jun, 2004 | Pubmed ID: 15084520
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.
Journal of neurochemistry May, 2004 | Pubmed ID: 15086521
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.
Molecular genetics and metabolism May, 2004 | Pubmed ID: 15110321
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis.
Molecular cell Sep, 2004 | Pubmed ID: 15350219
Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice.
Biochemical genetics Aug, 2004 | Pubmed ID: 15487588
Expression specificity of GFAP transgenes.
Neurochemical research Nov, 2004 | Pubmed ID: 15662842
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Human mutation Mar, 2005 | Pubmed ID: 15714521
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis.
Clinica chimica acta; international journal of clinical chemistry Apr, 2005 | Pubmed ID: 15748609
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
Journal of child neurology Jan, 2005 | Pubmed ID: 15791924
E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation.
Traffic (Copenhagen, Denmark) Jun, 2005 | Pubmed ID: 15882441
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
Journal of perinatology : official journal of the California Perinatal Association Jul, 2005 | Pubmed ID: 15908988
Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology.
Blood Oct, 2005 | Pubmed ID: 15941905
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Genetic testing , 2005 | Pubmed ID: 15943552
Short-term, high dose enzyme replacement therapy in sialidosis mice.
Molecular genetics and metabolism Jul, 2005 | Pubmed ID: 15979029
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
The American journal of pathology Dec, 2005 | Pubmed ID: 16314480
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Human molecular genetics Apr, 2006 | Pubmed ID: 16505002
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Human mutation Feb, 2007 | Pubmed ID: 17221873
Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice.
Journal of neurochemistry Jun, 2007 | Pubmed ID: 17442056
Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood-epididymal barrier and lead to altered sperm motility.
Journal of andrology Sep-Oct, 2007 | Pubmed ID: 17522420
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.
Molecular genetics and metabolism Jun, 2008 | Pubmed ID: 18387328
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Mar, 2009 | Pubmed ID: 18571950
Neuraminidase 1 is a negative regulator of lysosomal exocytosis.
Developmental cell Jul, 2008 | Pubmed ID: 18606142
Neuraminidase-1 is required for the normal assembly of elastic fibers.
American journal of physiology. Lung cellular and molecular physiology Oct, 2008 | Pubmed ID: 18689602
Mitochondrial alterations in dynamin 2-related centronuclear myopathy.
Arquivos de neuro-psiquiatria Mar, 2009 | Pubmed ID: 19330221
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
The Journal of biological chemistry Oct, 2009 | Pubmed ID: 19666471
Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.
Biochimica et biophysica acta Apr, 2009 | Pubmed ID: 19714866
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.
Biochimica et biophysica acta Feb, 2010 | Pubmed ID: 19857571
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.
Molecular cell Nov, 2009 | Pubmed ID: 19917257
Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.
PloS one , 2010 | Pubmed ID: 20352047
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.
Biochimica et biophysica acta Jul-Aug, 2010 | Pubmed ID: 20388541
LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity.
Journal of leukocyte biology Dec, 2010 | Pubmed ID: 20826611
Sialidases in vertebrates: a family of enzymes tailored for several cell functions.
Advances in carbohydrate chemistry and biochemistry , 2010 | Pubmed ID: 20837202
AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival.
PloS one , 2010 | Pubmed ID: 20976108
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
Biochemical Society transactions Dec, 2010 | Pubmed ID: 21118106
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Biochimica et biophysica acta Jul, 2011 | Pubmed ID: 21497194
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.
Molecular therapy : the journal of the American Society of Gene Therapy Feb, 2012 | Pubmed ID: 22008912
Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.
The Journal of biological chemistry Apr, 2012 | Pubmed ID: 22334701
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.
Molecular genetics and metabolism May, 2012 | Pubmed ID: 22386972
Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.
Development, growth & differentiation Feb, 2013 | Pubmed ID: 23302023
Identification and characterization of the nano-sized vesicles released by muscle cells.
FEBS letters May, 2013 | Pubmed ID: 23523921
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.
Biochimica et biophysica acta Oct, 2013 | Pubmed ID: 23770387
Galactosialidosis: review and analysis of CTSA gene mutations.
Orphanet journal of rare diseases Aug, 2013 | Pubmed ID: 23915561
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.
Nature communications , 2013 | Pubmed ID: 24225533
Lysosomal multienzyme complex: pros and cons of working together.
Cellular and molecular life sciences : CMLS Jun, 2014 | Pubmed ID: 24337808
Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.
Cells Aug, 2013 | Pubmed ID: 24709798
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
PloS one , 2014 | Pubmed ID: 25153125
Broad and direct interaction between TLR and Siglec families of pattern recognition receptors and its regulation by Neu1.
eLife Sep, 2014 | Pubmed ID: 25187624
Sialylation of prion protein controls the rate of prion amplification, the cross-species barrier, the ratio of PrPSc glycoform and prion infectivity.
PLoS pathogens Sep, 2014 | Pubmed ID: 25211026
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.
ASN neuro Jan-Feb, 2015 | Pubmed ID: 25694553
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.
Journal of lipid research May, 2015 | Pubmed ID: 25795792
Neuraminidase-1 mediates skeletal muscle regeneration.
Biochimica et biophysica acta Sep, 2015 | Pubmed ID: 26001931
Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.
PloS one , 2015 | Pubmed ID: 26569607
Regulated lysosomal exocytosis mediates cancer progression.
Science advances Dec, 2015 | Pubmed ID: 26824057
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
Expert opinion on orphan drugs , 2015 | Pubmed ID: 26949572
Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier.
Nature communications 06, 2016 | Pubmed ID: 27336173
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.
Expert opinion on orphan drugs , 2017 | Pubmed ID: 28603679
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.
Cell death & disease 02, 2018 | Pubmed ID: 29491402
Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles.
Biochimica et biophysica acta. General subjects 12, 2018 | Pubmed ID: 30251702
Lysosomal storage diseases.
Nature reviews. Disease primers 10, 2018 | Pubmed ID: 30275469
Author Correction: Lysosomal storage diseases.
Nature reviews. Disease primers Oct, 2018 | Pubmed ID: 30337566
Publisher Correction: Lysosomal storage diseases.
Nature reviews. Disease primers May, 2019 | Pubmed ID: 31101820
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.
Science advances 07, 2019 | Pubmed ID: 31328155
MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat.
Nature communications 08, 2019 | Pubmed ID: 31399583
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Molecular genetics and metabolism 02, 2020 | Pubmed ID: 31711734
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Molecular genetics and metabolism reports Dec, 2019 | Pubmed ID: 31720227
Skeletal muscle cells derived from mouse skin cultures.
Biochemical and biophysical research communications Jan, 2020 | Pubmed ID: 31926596
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Journal of clinical medicine 03, 2020 | Pubmed ID: 32143456
Transcription factor competition regulates lysosomal biogenesis and autophagy.
Molecular & cellular oncology , 2020 | Pubmed ID: 32158913