Recent Interesting Publications

AUTOPHAGY

Dysregulation of autophagy as a common mechanism in LSD Seranova 2017

 

EPIGENETICS

Genetics and epigenetics of the X chromosome

The role of epigenetics in LSD

 

LYSOSOMES AND LYSOSOMAL FUNCTION

The lysosome from waste bag to potential therapeutic target

TFEB at a glance

The lysosome as a command-and-control center for cellular metabolism

 

PATHOGENESIS OF LYSOSOMAL STORAGE DISORDERS

Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration

Neuroinflammatory paradigms in lysosomal storage diseases

Mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases Saffari 2017

The pathogenesis of lysosomal storage disorders; beyond the engorgement of lysosomes to abnormal development and neuroinflammation.

 

FABRY DISEASE

Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as compared to ERT

 

GAUCHER DISEASE

Association Between Progranulin and Gaucher Disease

Identification of Modifier Genes in a mouse model of Gaucher Disease 2016

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson’s disease

Oculomotor and Vestibular Findings in Gaucer disease tpe 3 and their corelation with neurological findings

Intracranial gene therapy AAV9 Gaucher mouse model 2018

Retinal detachment in a boy with Gaucher disease

Delivery of Gba Gene Using AAV9 Vector Therapy as a treatment in mouse models of Gaucher disease

 

GM2 GANGLIOSIDOSES

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model

 

ALPHA-MANNOSIDOSIS

Alpha-Mannosidosis Therapeutic Strategies 2018

Efficacy and safety of Velmanase alfa . Phase III study

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase

 

MUCOPOLYSACCHARIDOSES (GENERAL)

Neonatal cellular and gene therapies for mucopolysaccharidoses; the earlier the better? 2016

Treatment of brain disease in the mucopolysaccharidoses 2017

Gene therapy for mucopolysaccharidoses; in vivo and ex vivo approaches

 

MUCOPOLYSACCHARIDOSIS TYPE I

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

Outcomes of Long-Term Treatment with Laronidase in Patients with mucopolysaccharidosis Type I

Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation 2017

 

MUCOPOLYSACCHARIDOSIS TYPE II

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

Clinical outcomes in idursulfase-treated patients with MPS II. 3- year data from Hunter Outcome Survey (HOS)

Survival in idursulfase treated and untreated patients with mucopolysaccharidosis type II data from the Hunter Outcome Survey (HOS)

Development of idursulfase therapy for MPS II 2017

X-Chromosome Inactivation Analysis in Different Cell Types MPS II

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

 

MUCOPOLYSACCHARIDOSIS TYPE III

Recommendations on clinical trial design for treatment of MPS III 2017

Cardiac disease in mucopolysaccharidosis type III

 

MUCOPOLYSACCHARIDOSIS TYPE IV

Outcomes from 18 years of cervical spine surgery in MPS IVA; a single centre’s experience

 

NIEMANN-PICK DISEASE TYPE B

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD)

 

NIEMANN-PICK DISEASE TYPE C

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.

Summary of clinical trials in NPC 2016

Histone deacetylase inhibitors correct the cholesterol storage defect in most NPC1 mutant cells

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Psychiatric and Cognitive Symptoms Associated with Niemann‑Pick type C disease; Neurobiology and Management

POMPE DISEASE

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Low-dose liver targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction

Modulation of mTOR signaling as a strategy for the treatment of Pompe disease

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

A pilot study on using rapamycin-carrying synthetic vaccine particles in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease

Sustained immune tolerance induction in CRIM negative patients on ERT 2017

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase III Trial of Clenbuterol in Pompe disease

 

TREATMENT OF LYSOSOMAL STORAGE DISORDERS-OVERVIEW/REVIEWS

Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?

 

CHAPERONE THERAPY (GENERAL)

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

 

ENZYME REPLACEMENT THERAPY (GENERAL)

Glyco-engineering strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases.

 

SUBSTRATE REDUCTION THERAPY (GENERAL)

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects

 

GENE THERAPY (GENERAL)

Adeno-Associated Virus-Based Gene Therapy for CNS Diseases 2016

Gene Therapy: The View from NCATS 2016

Gene Therapy for LSD 2017 review

Adeno-Associated Virus Gene Therapy for Liver Disease

The Liver as a Target Organ for Gene Therapy: State of the Art, Challenges, and Future Perspectives

Hematopoietic Stem Cell Gene Therapy Biffi 2017

A novel adenoassociated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane deficiency

Fetal gene therapy for neurodegenerative lysosomal storage disorders

A novel adenoassociated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane deficiency

Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease

Emerging Issues in AAV-mediated in vivo gene therapy

 

MRNA THERAPY

MRNA therapy for genetic diseases review 2019

Next-Generation Therapeutics mRNA as a Novel Therapeutic Option for Single-Gene Disorders

 

READ THROUGH THERAPEUTIC SUPPRESSION OF STOP CODONS

Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)

 

GENE EDITING

CRISPR – A Prospective Treatment Option for Lysosomal Storage Diseases