New Approaches to Tay-Sachs Disease Therapy

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease

(2018) Volkan Seyrantepe et al.   EXPERIMENTAL NEUROLOGY

Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay–Sachs Disease

(2018) Heather L. Gray-Edwards et al.   HUMAN GENE THERAPY

Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C

(2018) Shady Safwat Hassan et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

(2018) Igor Nestrasil et al.   MOLECULAR GENETICS AND METABOLISM

Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing

(2018) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease

(2018) Ari Zimran et al.   Orphanet Journal of Rare Diseases

Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones

(2018) David M. Pereira et al.   Chemical Science

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

(2018) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

Miglustat in Niemann-Pick disease type C patients: a review

(2018) Mercè Pineda et al.   Orphanet Journal of Rare Diseases

Direct Intracranial Injection of AAVrh8 Encoding Monkey β-N-Acetylhexosaminidase Causes Neurotoxicity in the Primate Brain

(2017) Diane Golebiowski et al.   HUMAN GENE THERAPY

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression

(2017) Federica Deodato et al.   METABOLIC BRAIN DISEASE

Infantile gangliosidoses: Mapping a timeline of clinical changes

(2017) Jeanine R. Jarnes Utz et al.   MOLECULAR GENETICS AND METABOLISM

Human Umbilical Cord Blood Cell Transplantation in Neuroregenerative Strategies

(2017) Luisa R. Galieva et al.   Frontiers in Pharmacology

Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism

(2016) Konrad Sandhoff   BIOCHIMIE

Neural Stem Cell Transplantation and CNS Diseases

(2016) Rodolfo Gonzalez et al.   CNS & Neurological Disorders-Drug Targets

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2Gangliosidosis in Sandhoff Mice

(2016) Karlaina J.L. Osmon et al.   HUMAN GENE THERAPY

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

(2016) Subha Karumuthil-Melethil et al.   HUMAN GENE THERAPY

Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation

(2016) Devin Dersh et al.   MOLECULAR BIOLOGY OF THE CELL

Generation of HEXA -deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient

(2016) Zhong Liu et al.   Stem Cell Research

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

(2016) Michael B Tropak et al.   Molecular Therapy-Methods & Clinical Development

Gene therapy for lysosomal storage disorders: a good start

(2015) Alessandra Biffi   HUMAN MOLECULAR GENETICS

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses

(2015) Jeanine R. Jarnes Utz et al.   MOLECULAR GENETICS AND METABOLISM

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study

(2015) Etty Osher et al.   Orphanet Journal of Rare Diseases

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients

(2014) Anna Sara Berardi et al.   MOLECULAR GENETICS AND METABOLISM

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA

(2013) Nicolina Cristina Sorrentino et al.   EMBO Molecular Medicine

Reversibility of neuropathology in Tay–Sachs-related diseases

(2013) María-Begoña Cachón-González et al.   HUMAN MOLECULAR GENETICS

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

(2013) K. Sandhoff et al.   JOURNAL OF NEUROSCIENCE

Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy

(2013) Allison M Bradbury et al.   MOLECULAR THERAPY

Atypical presentation of late-onset Tay-sachs disease

(2013) Andres Deik et al.   MUSCLE & NERVE

New strategies for the treatment of lysosomal storage diseases (Review)

(2012) GIANCARLO PARENTI et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

(2012) Ethan D. Goddard-Borger et al.   JOURNAL OF MEDICINAL CHEMISTRY

Gene Transfer Corrects Acute GM2 Gangliosidosis—Potential Therapeutic Contribution of Perivascular Enzyme Flow

(2012) M Begoña Cachón-González et al.   MOLECULAR THERAPY

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

(2012) Mehul Mistri et al.   PLoS One

Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis

(2011) Kazuhiko Matsuoka et al.   MOLECULAR THERAPY

Natural History of Infantile GM2 Gangliosidosis

(2011) A. E. Bley et al.   PEDIATRICS

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

(2010) Daisuke Tsuji et al.   ANNALS OF NEUROLOGY

2,5-Dideoxy-2,5-imino-d-altritol as a new class of pharmacological chaperone for Fabry disease

(2010) Atsushi Kato et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells

(2010) Stephanie D. Boomkamp et al.   GLYCOCONJUGATE JOURNAL

Tay-Sachs disease in Jacob sheep

(2010) Paola A. Torres et al.   MOLECULAR GENETICS AND METABOLISM

Pathology of GM2 Gangliosidosis in Jacob Sheep

(2010) B. F. Porter et al.   VETERINARY PATHOLOGY

Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay–Sachs disease

(2009) Tomomi Hayase et al.   BRAIN & DEVELOPMENT

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Substrate reduction therapy in juvenile GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

The controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an update

(2008) A M Rovelli   BONE MARROW TRANSPLANTATION

Lysosomal Storage Diseases and the Blood-Brain Barrier

(2008) David Begley et al.   CURRENT PHARMACEUTICAL DESIGN

Spontaneous appearance of Tay–Sachs disease in an animal model

(2008) B.J. Zeng et al.   MOLECULAR GENETICS AND METABOLISM