(Q52606785)

2 July 2019

2 references

19 September 2019

29 October 2020

Genetics and Therapies for GM2 Gangliosidosis. (English)

1 reference

2 July 2019

biomedical investigative technique

2 references

19 September 2019

29 October 2020

1 reference

19 September 2019

2 references

19 September 2019

29 October 2020

1 reference

29 October 2020

Eva Zaccariotto

2

1 reference

2 July 2019

Timothy Martin Cox

series ordinal

3

1 reference

2 July 2019

Maria Begona Cachon-Gonzalez

series ordinal

1

1 reference

2 July 2019

language of work or name

English

0 references

publication date

1 January 2018

1 reference

2 July 2019

published in

Current Gene Therapy

3 references

2 July 2019

19 September 2019

29 October 2020

18

1 reference

2 July 2019

issue

2

1 reference

2 July 2019

page(s)

68-89

1 reference

2 July 2019

Creative Commons Attribution-NonCommercial

copyright license

2 references

19 September 2019

29 October 2020

GM2-gangliosidosis, AB variant: clinico-pathological study of a case

1 reference

12 December 2020

GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

1 reference

12 December 2020

Purification and Characterization of an Activator Protein for the Degradation of Glycolipids GM2and GA2by Hexosaminidase A

1 reference

12 December 2020

Enzyme replacement in Tay-Sachs disease

1 reference

12 December 2020

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

1 reference

12 December 2020

Novel Tay-Sachs disease mutations from China

1 reference

12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

Neuronal ubiquitin and neurofilament expression in different lysosomal storage disorders

1 reference

12 December 2020

A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline

1 reference

12 December 2020

The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A

1 reference

12 December 2020

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

1 reference

12 December 2020

Site-specific integration by adeno-associated virus

1 reference

12 December 2020

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

1 reference

12 December 2020

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 reference

12 December 2020

Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

1 reference

12 December 2020

The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes

1 reference

12 December 2020

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

1 reference

12 December 2020

Isolation of a cDNA encoding the human GM2 activator protein

1 reference

12 December 2020

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

1 reference

12 December 2020

Organization of the gene encoding the human beta-hexosaminidase alpha-chain

1 reference

12 December 2020

Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts

1 reference

12 December 2020

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

1 reference

12 December 2020

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits

1 reference

12 December 2020

Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.

1 reference

12 December 2020

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

1 reference

12 December 2020

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

1 reference

12 December 2020

Sandhoff disease: 36 cases from Cordoba, Argentina

1 reference

12 December 2020

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

1 reference

12 December 2020

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

12 December 2020

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

1 reference

12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

12 December 2020

Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats

1 reference

12 December 2020

Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation

1 reference

12 December 2020

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

1 reference

12 December 2020

The white matter in G M2 gangliosidosis. A comparative histopathological and biochemical study

1 reference

12 December 2020

Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.

1 reference

12 December 2020

Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease

1 reference

12 December 2020

N-Acetyl-β-glucosaminidases in human spleen

1 reference

12 December 2020

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

1 reference

12 December 2020

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

12 December 2020

1 reference

12 December 2020

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts

1 reference

12 December 2020

cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

12 December 2020

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

12 December 2020

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis

1 reference

12 December 2020

Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon

1 reference

12 December 2020

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

1 reference

12 December 2020

Cell and tissue distribution and developmental change of neuron specific 14 kDa protein (phosphoneuroprotein 14)

1 reference

12 December 2020

Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation

1 reference

12 December 2020

Multinuclear NMR studies on the energy metabolism of glial and neuronal cells

1 reference

12 December 2020

Cloned beta 1,4 N-acetylgalactosaminyltransferase synthesizes GA2 as well as gangliosides GM2 and GD2. GM3 synthesis has priority over GA2 synthesis for utilization of lactosylceramide substrate in vivo

1 reference

12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

1 reference

12 December 2020

The proton NMR spectrum in acute EAE: the significance of the change in the Cho:Cr ratio

1 reference

12 December 2020

Chemical pathology of acute demyelinating lesions and its correlation with disability

1 reference

12 December 2020

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

1 reference

12 December 2020

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A

1 reference

12 December 2020

Treatment of Gaucher disease with an enzyme inhibitor

1 reference

12 December 2020

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

1 reference

12 December 2020

Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system

1 reference

12 December 2020

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

1 reference

12 December 2020

Mouse model of G M2 activator deficiency manifests cerebellar pathology and motor impairment

1 reference

12 December 2020

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

1 reference

12 December 2020

Tay-Sachs disease and HEXA mutations among Moroccan Jews

1 reference

12 December 2020

Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons.

1 reference

12 December 2020

Regulation of phospholipase D2: selective inhibition of mammalian phospholipase D isoenzymes by alpha- and beta-synucleins

1 reference

12 December 2020

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

1 reference

12 December 2020

The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein.

1 reference

12 December 2020

The caveolae membrane system

1 reference

12 December 2020

New insights in glycosphingolipid function: "glycosignaling domain," a cell surface assembly of glycosphingolipids with signal transducer molecules,involved in cell adhesion coupled with signaling.

1 reference

12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

Prevalence of lysosomal storage disorders

1 reference

12 December 2020

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice

1 reference

12 December 2020

Improved Inhibitors of Glucosylceramide Synthase

1 reference

12 December 2020

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

1 reference

12 December 2020

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects

1 reference

12 December 2020

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

1 reference

12 December 2020

Biochemical consequences of mutations causing the GM2 gangliosidoses

1 reference

12 December 2020

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

12 December 2020

Endogenous GM1 ganglioside of the plasma membrane promotes neuritogenesis by two mechanisms

1 reference

12 December 2020

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

1 reference

12 December 2020

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

1 reference

12 December 2020

Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons.

1 reference

12 December 2020

Crystal structure of human GM2-activator protein with a novel beta-cup topology

1 reference

12 December 2020

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

1 reference

12 December 2020

Magnetic resonance spectroscopy of the human brain

1 reference

12 December 2020

Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse

1 reference

12 December 2020

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

1 reference

12 December 2020

Regulation of apoptosis during neuronal differentiation by ceramide and b-series complex gangliosides

1 reference

12 December 2020

Naturally occurring mutations in GM2 gangliosidosis: a compendium

1 reference

12 December 2020

Screening and prevention in Tay-Sachs disease: origins, update, and impact

1 reference

12 December 2020

Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein

1 reference

12 December 2020

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

1 reference

12 December 2020

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling

1 reference

12 December 2020

Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy

1 reference

12 December 2020

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

1 reference

12 December 2020

Cholesterol, lipid rafts, and disease

1 reference

12 December 2020

ER-associated degradation in protein quality control and cellular regulation

1 reference

12 December 2020

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

1 reference

12 December 2020

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

1 reference

12 December 2020

Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model

1 reference

12 December 2020

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

1 reference

12 December 2020

The pathology of Tay-Sachs' disease.

1 reference

12 December 2020

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

1 reference

12 December 2020

Membranous cytoplasmic granules in infantile amaurotic idiocy

1 reference

12 December 2020

The chemical structure of normal human brain and Tay-Sachs gangliosides

1 reference

12 December 2020

Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum

1 reference

12 December 2020

THE GLYCOLIPIDS OF THE BRAIN OF TAY-SACHS' DISEASE.--THE CHEMICAL STRUCTURES OF A GLOBOSIDE AND MAIN GANGLIOSIDE

1 reference

12 December 2020

AN ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY OF TYPE II GLYCOGENOSIS

1 reference

12 December 2020

FROM CYTASES TO LYSOSOMES

1 reference

12 December 2020

Morphologic evolution of amaurotic family idiocy; the protracted phase of the disease

1 reference

12 December 2020

Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses

1 reference

12 December 2020

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

1 reference

12 December 2020

An inversion of 25 base pairs causes feline GM2 gangliosidosis variant

1 reference

12 December 2020

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

1 reference

12 December 2020

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

1 reference

12 December 2020

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

1 reference

12 December 2020

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease

1 reference

12 December 2020

ERAD: the long road to destruction

1 reference

12 December 2020

Proton MR spectroscopy in three children with Tay-Sachs disease

1 reference

12 December 2020

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis

1 reference

12 December 2020

Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis

1 reference

12 December 2020

MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.

1 reference

12 December 2020

Dysautonomic achalasia in two siblings with Sandhoff disease

1 reference

12 December 2020

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

1 reference

12 December 2020

Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism

1 reference

12 December 2020

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

1 reference

12 December 2020

Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway

1 reference

12 December 2020

Ubiquitin-proteasome system and Parkinson's disease

1 reference

12 December 2020

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

1 reference

12 December 2020

Epidermal growth factor receptor tyrosine kinase is modulated by GM3 interaction with N-linked GlcNAc termini of the receptor

1 reference

12 December 2020

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

1 reference

12 December 2020

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

1 reference

12 December 2020

Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine

1 reference

12 December 2020

Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses

1 reference

12 December 2020

AAV vector integration sites in mouse hepatocellular carcinoma.

1 reference

12 December 2020

A block of autophagy in lysosomal storage disorders

1 reference

12 December 2020

Nuclear sphingolipids: metabolism and signaling

1 reference

12 December 2020

Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection

1 reference

12 December 2020

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.

1 reference

12 December 2020

1 reference

12 December 2020

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

1 reference

12 December 2020

Spontaneous appearance of Tay-Sachs disease in an animal model

1 reference

12 December 2020

Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.

1 reference

12 December 2020

The role of glycosphingolipid metabolism in the developing brain

1 reference

12 December 2020

Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease

1 reference

12 December 2020

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

1 reference

12 December 2020

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A.

1 reference

12 December 2020

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

1 reference

12 December 2020

Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome

1 reference

12 December 2020

A gene network regulating lysosomal biogenesis and function

1 reference

12 December 2020

Substrate reduction therapy in juvenile GM2 gangliosidosis

1 reference

12 December 2020

Brain gangliosides in axon-myelin stability and axon regeneration.

1 reference

12 December 2020

Neuronal Enzyme Alterations in Tay-Sachs Disease.

1 reference

12 December 2020

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

1 reference

12 December 2020

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

1 reference

12 December 2020

Autophagy gone awry in neurodegenerative diseases

1 reference

12 December 2020

Tay-Sachs disease in Jacob sheep

1 reference

12 December 2020

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)

1 reference

12 December 2020

Protein quality control in the cytosol and the endoplasmic reticulum: brothers in arms.

1 reference

12 December 2020

Pathology of GM2 gangliosidosis in Jacob sheep

1 reference

12 December 2020

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

1 reference

12 December 2020

Adeno-associated viruses

1 reference

12 December 2020

Several rAAV vectors efficiently cross the blood-brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system

1 reference

12 December 2020

Myelin genes are downregulated in canine fucosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics

1 reference

12 December 2020

Natural history of infantile G(M2) gangliosidosis

1 reference

12 December 2020

Directed evolution of adeno-associated virus for enhanced gene delivery and gene targeting in human pluripotent stem cells

1 reference

12 December 2020

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

1 reference

12 December 2020

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease

1 reference

12 December 2020

Functional roles of gangliosides in neurodevelopment: an overview of recent advances

1 reference

12 December 2020

Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow

1 reference

12 December 2020

Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice

1 reference

12 December 2020

A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).

1 reference

12 December 2020

GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease

1 reference

12 December 2020

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

1 reference

12 December 2020

Recombinant adeno-associated virus integration sites in murine liver after ornithine transcarbamylase gene correction

1 reference

12 December 2020

Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy.

1 reference

12 December 2020

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.

1 reference

12 December 2020

In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous

1 reference

12 December 2020

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease

1 reference

12 December 2020

Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.

1 reference

12 December 2020

Reversibility of neuropathology in Tay-Sachs-related diseases

1 reference

12 December 2020

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

1 reference

12 December 2020

Adeno-associated virus vectors and neurological gene therapy

1 reference

12 December 2020

Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10

1 reference

12 December 2020

Galectin-3 drives glycosphingolipid-dependent biogenesis of clathrin-independent carriers

1 reference

12 December 2020

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

1 reference

12 December 2020

Simplifying complexity: genetically resculpting glycosphingolipid synthesis pathways in mice to reveal function

1 reference

12 December 2020

Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease

1 reference

12 December 2020

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates

1 reference

12 December 2020

Tay-Sachs disease: current perspectives from Australia

1 reference

12 December 2020

AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system

1 reference

12 December 2020

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.

1 reference

12 December 2020

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

1 reference

12 December 2020

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

1 reference

12 December 2020

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

1 reference

12 December 2020

1 reference

12 December 2020

Accumulated α-synuclein affects the progression of GM2 gangliosidoses

1 reference

12 December 2020

Caspase-1 causes truncation and aggregation of the Parkinson's disease-associated protein α-synuclein

1 reference

12 December 2020

Animal models of GM2 gangliosidosis: utility and limitations

1 reference

12 December 2020

Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

1 reference

12 December 2020

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

1 reference

12 December 2020

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy

1 reference

12 December 2020

Cerliponase Alfa: First Global Approval

1 reference

12 December 2020

Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.2174/1566523218666180404162622

Identifiers

DOI

1 reference

2 July 2019

PMC publication ID

6040173

1 reference

2 July 2019

PubMed publication ID

29618308

1 reference

2 July 2019