GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

Natural History of Adult Patients with GM2 Gangliosidosis

(2020) Marion Masingue et al.   ANNALS OF NEUROLOGY

A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases

(2020) Li Ou et al.   GENE THERAPY

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

(2020) Ludovica Liguori et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Recombinant hexosaminidases conjugated to magnetite nanoparticles: Alternative therapeutic treatment routes in GM2 fibroblasts

(2020) Zully Pulido et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome biology in autophagy

(2020) Willa Wen-You Yim et al.   Cell Discovery

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

(2020) Frédéric Darios et al.   JOURNAL OF MOLECULAR BIOLOGY

FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

(2020) Sven F. Garbade et al.   PLoS One

Lysosomal storage diseases: current therapies and future alternatives

(2020) Andrés Felipe Leal et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice

(2020) Hannah G. Lahey et al.   MOLECULAR THERAPY

The C/EBP Homologous Protein (CHOP) Transcription Factor Functions in Endoplasmic Reticulum Stress-Induced Apoptosis and Microbial Infection

(2019) Hai Hu et al.   Frontiers in Immunology

Adeno-associated Virus (AAV) versus Immune Response

(2019) Joseph Rabinowitz et al.   Viruses-Basel

Brain organoids as a model system for human neurodevelopment and disease

(2019) Harpreet Setia et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Hypoimmunogenic derivatives of induced pluripotent stem cells evade immune rejection in fully immunocompetent allogeneic recipients

(2019) Tobias Deuse et al.   NATURE BIOTECHNOLOGY

Genome Editing with mRNA Encoding ZFN, TALEN, and Cas9

(2019) Hong-Xia Zhang et al.   MOLECULAR THERAPY

Exploiting epigenetics for the treatment of inborn errors of metabolism

(2019) Martijn G.S. Rutten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

(2019) Laura E. Kuil et al.   GLIA

Generation of hypoimmunogenic human pluripotent stem cells

(2019) Xiao Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments

(2019) Kazuki Sawamoto et al.   DRUGS

Microglial clearance of focal apoptotic synapses

(2019) Saori Nonaka et al.   NEUROSCIENCE LETTERS

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy

(2019) Renato Santos et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Super-precise new CRISPR tool could tackle a plethora of genetic diseases

(2019) Heidi Ledford   NATURE

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: Implications for in vivo end ex vivo gene therapy of GM2 gangliosidosis

(2019) Francesca Ornaghi et al.   NEUROBIOLOGY OF DISEASE

Prime editing promises to be a cut above CRISPR

(2019) Jon Cohen   SCIENCE

An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

(2019) Oguz Kanca et al.   eLife

Engineering the AAV capsid to evade immune responses

(2019) Christopher Barnes et al.   CURRENT OPINION IN BIOTECHNOLOGY

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

(2019) Juan Camilo Losada Díaz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery

(2019) Ruben J. Boado et al.   Scientific Reports

Genetics and Therapies for GM2 Gangliosidosis

(2018) Maria Begona Cachon-Gonzalez et al.   CURRENT GENE THERAPY

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

(2018) Hélène FE Gleitz et al.   EMBO Molecular Medicine

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

(2018) Volkan Seyrantepe et al.   EXPERIMENTAL NEUROLOGY

Emerging concepts of ganglioside metabolism

(2018) Roger Sandhoff et al.   FEBS LETTERS

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

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

Introduction to the Thematic Minireview Series: DNA double-strand break repair and pathway choice

(2018) Patrick Sung   JOURNAL OF BIOLOGICAL CHEMISTRY

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation

(2018) Maria L. Allende et al.   JOURNAL OF LIPID RESEARCH

Gene therapy for Mucopolysaccharidoses

(2018) Kazuki Sawamoto et al.   MOLECULAR GENETICS AND METABOLISM

Inhibition of astrocytic adenosine receptor A 2A attenuates microglial activation in a mouse model of Sandhoff disease

(2018) Yasuhiro Ogawa et al.   NEUROBIOLOGY OF DISEASE

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Strategies for In Vivo Genome Editing in Nondividing Cells

(2018) Fatemeharefeh Nami et al.   TRENDS IN BIOTECHNOLOGY

The Current State and Future of CRISPR-Cas9 gRNA Design Tools

(2018) Laurence O. W. Wilson et al.   Frontiers in Pharmacology

In Vivo Genome Editing as a Therapeutic Approach

(2018) Beatrice Ho et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease

(2018) Mylinh Vu et al.   Orphanet Journal of Rare Diseases

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

(2018) Ali Reza Tavasoli et al.   Orphanet Journal of Rare Diseases

Gene therapy for lysosomal storage diseases and peroxisomal diseases

(2018) Toya Ohashi   JOURNAL OF HUMAN GENETICS

Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease

(2018) Yuehong Chen et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The role of innate immunity in mucopolysaccharide diseases

(2018) Helen Parker et al.   JOURNAL OF NEUROCHEMISTRY

HLA testing in the molecular diagnostic laboratory

(2018) Kathleen Madden et al.   VIRCHOWS ARCHIV

New Approaches to Tay-Sachs Disease Therapy

(2018) Valeriya V. Solovyeva et al.   Frontiers in Physiology

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

(2018) Evan Woodley et al.   Molecular Therapy-Methods & Clinical Development

Neurite atrophy and apoptosis mediated by PERK signaling after accumulation of GM2-ganglioside

(2018) María José Virgolini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mechanisms of radial glia progenitor cell lineage progression

(2017) Robert Beattie et al.   FEBS LETTERS

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

(2017) Diane Golebiowski et al.   HUMAN GENE THERAPY

Reactive Astrocytes: Production, Function, and Therapeutic Potential

(2017) Shane A. Liddelow et al.   IMMUNITY

The role of epigenetics in lysosomal storage disorders: Uncharted territory

(2017) Shahzeb Hassan et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications

(2017) Alessandra Biffi   MOLECULAR THERAPY

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease

(2017) Allison M. Bradbury et al.   NEUROSCIENCE

In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay–Sachs disease

(2017) Atsushi Kato et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice

(2017) Yasuhiro Ogawa et al.   Scientific Reports

Restoring GM1 ganglioside expression ameliorates axonal outgrowth inhibition and cognitive impairments induced by blast traumatic brain injury

(2017) Vardit Rubovitch et al.   Scientific Reports

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

(2016) Jayesh Sheth et al.   BMC Pediatrics

The awesome lysosome

(2016) A. Ballabio   EMBO Molecular Medicine

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

Cell uptake evaluation of human recombinant lysosomal enzymes produced in Pichia pastoris

(2016) Carlos J. Almeciga et al.   MOLECULAR GENETICS AND METABOLISM

Insulin Receptor Antibody−α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts

(2016) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy

(2016) Eirini P Papapetrou et al.   MOLECULAR THERAPY

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

Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease

(2016) Jinlong Jian et al.   EBioMedicine

AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System

(2015) Hannah E. Rockwell et al.   ASN Neuro

Human exonuclease 1 (EXO1) activity characterization and its function on FLAP structures

(2015) Guido Keijzers et al.   BIOSCIENCE REPORTS

Gene therapy for lysosomal storage disorders: a good start

(2015) Alessandra Biffi   HUMAN MOLECULAR GENETICS

Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice

(2015) Helen Beard et al.   MOLECULAR GENETICS AND METABOLISM

Human recombinant lysosomal enzymes produced in microorganisms

(2015) Ángela J. Espejo-Mojica et al.   MOLECULAR GENETICS AND METABOLISM

GM1 Ganglioside: Past Studies and Future Potential

(2015) Massimo Aureli et al.   MOLECULAR NEUROBIOLOGY

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

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys

(2014) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

Insulin Receptor Antibody–Sulfamidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type A Cells

(2014) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

Analysis of the Role of Homology Arms in Gene-Targeting Vectors in Human Cells

(2014) Ayako Ishii et al.   PLoS One

The therapeutic potential of chemical chaperones in protein folding diseases

(2014) Leonardo Cortez et al.   Prion

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

(2013) Robert E. Boyd et al.   JOURNAL OF MEDICINAL CHEMISTRY

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

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

Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

(2013) Elena Chiricozzi et al.   MOLECULAR NEUROBIOLOGY

Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice

(2013) Julian R. Arthur et al.   NEUROCHEMICAL RESEARCH

GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

(2012) Laura Gort et al.   GENE

Hyaluronidase 1 and β-Hexosaminidase Have Redundant Functions in Hyaluronan and Chondroitin Sulfate Degradation

(2012) Lara Gushulak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

(2012) Stefania Zampieri et al.   PLoS One

My journey into the world of sphingolipids and sphingolipidoses

(2012) Konrad SANDHOFF   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Characterization of Inducible Models of Tay-Sachs and Related Disease

(2012) Timothy J. Sargeant et al.   PLoS Genetics

Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain

(2011) Timothy J. Sargeant et al.   HUMAN MOLECULAR GENETICS

Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone

(2011) Katherine S. Bateman et al.   JOURNAL OF MEDICINAL CHEMISTRY

Structures, Biosynthesis, and Functions of Gangliosides-an Overview

(2011) Robert K. Yu et al.   Journal of Oleo Science

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

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease

(2011) Karen M. Ashe et al.   PLoS One

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

(2010) Daisuke Tsuji et al.   ANNALS OF NEUROLOGY

Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model

(2010) I. Visigalli et al.   BLOOD

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease

(2010) Kazuhiko Matsuoka et al.   MOLECULAR THERAPY

The Complex and Evolving Story of T cell Activation to AAV Vector-encoded Transgene Products

(2010) Lauren E Mays et al.   MOLECULAR THERAPY

Infantile Sandhoff's Disease With Peripheral Neuropathy

(2010) Anuj Jain et al.   PEDIATRIC NEUROLOGY

Ganglioside GM3 and its biological functions

(2009) N. V. Prokazova et al.   BIOCHEMISTRY-MOSCOW

Substrate reduction therapy in juvenile GM2 gangliosidosis

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

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes

(2008) V. K. Prasad et al.   BLOOD

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM

Functional role of glycosphingolipids and gangliosides in control of cell adhesion, motility, and growth, through glycosynaptic microdomains

(2007) Adriane Regina Todeschini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS