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Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

Cell death & disease, 2018-02, Vol.9 (3), p.328-16, Article 328

2018

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GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

Molecular cell, 2009-11, Vol.36 (3), p.500-511

2009

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MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat

Nature communications, 2019-08, Vol.10 (1), p.3623-18, Article 3623

2019

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GM1 Gangliosidosis-A Mini-Review

Frontiers in genetics, 2021-09, Vol.12, p.734878-734878

2021

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Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model

Cell reports (Cambridge), 2024-05, Vol.43 (5), p.114117, Article 114117

2024

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Glycosphingolipids within membrane contact sites influence their function as signaling hubs in neurodegenerative diseases

FEBS open bio, 2023-09, Vol.13 (9), p.1587-1600

2023

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Transcription factor competition regulates lysosomal biogenesis and autophagy

Molecular & cellular oncology, 2020-03, Vol.7 (2), p.1685840-1685840

2020

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Lysosomes and Cancer Progression: A Malignant Liaison

Frontiers in cell and developmental biology, 2021-02, Vol.9, p.642494-642494

2021

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The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases

Cell, 2003-05, Vol.113 (4), p.445-456

2003

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Regulated lysosomal exocytosis mediates cancer progression

Science advances, 2015-12, Vol.1 (11), p.e1500603-e1500603

2015

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Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations

Stem cell research, 2020-07, Vol.46, p.101836-101836, Article 101836

2020

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Sialylation of host proteins as targetable risk factor for COVID‐19 susceptibility and spreading: A hypothesis

FASEB bioAdvances, 2021-03, Vol.3 (3), p.192-197

2021

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Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis

Science advances, 2019-07, Vol.5 (7), p.eaav3270-eaav3270

2019

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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, 2015-11, Vol.10 (11), p.e0143218

2015

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AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study

Molecular therapy. Methods & clinical development, 2021-12, Vol.23, p.644-658

2021

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Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Molecular therapy. Methods & clinical development, 2021-03, Vol.20, p.191-203

2021

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Isolation, Purification and Characterization of Exosomes from Fibroblast Cultures of Skeletal Muscle

Bio-protocol, 2020-04, Vol.10 (7)

2020

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Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis

Cells (Basel, Switzerland), 2022-08, Vol.11 (16), p.2579

2022

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Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis

Cells, 2013-08, Vol.2 (3), p.574-590

2013

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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Journal of clinical medicine, 2020-03, Vol.9 (3), p.695

2020

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Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4506-4511

2007

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Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum

The EMBO journal, 2007-05, Vol.26 (10), p.2443-2453

2007

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Lysosomal multienzyme complex: pros and cons of working together

Cellular and molecular life sciences : CMLS, 2014-06, Vol.71 (11), p.2017-2032

2014

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GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

Molecular cell, 2009-11, Vol.36 (3), p.500-511

2009

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Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis

Nature communications, 2013-01, Vol.4 (1), p.2734-2734, Article 2734

2013

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Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat

GM1 Gangliosidosis-A Mini-Review

Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model

Glycosphingolipids within membrane contact sites influence their function as signaling hubs in neurodegenerative diseases

Transcription factor competition regulates lysosomal biogenesis and autophagy

Lysosomes and Cancer Progression: A Malignant Liaison

The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases

Regulated lysosomal exocytosis mediates cancer progression

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations

Sialylation of host proteins as targetable risk factor for COVID‐19 susceptibility and spreading: A hypothesis

Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1

AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Isolation, Purification and Characterization of Exosomes from Fibroblast Cultures of Skeletal Muscle

Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis

Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum

Lysosomal multienzyme complex: pros and cons of working together

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis

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