专题:Lysosomal Storage Disorders Research

This cluster of papers explores the diverse aspects of lysosomal storage disorders, including enzyme replacement therapy, genetic mutations, and the impact on various diseases such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Parkinson's disease. It also delves into the underlying mechanisms related to cholesterol metabolism and neuronal ceroid lipofuscinoses.
最新文献
Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases

review Full Text OpenAlex

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

article Full Text OpenAlex

Prosaposin maintains adult neural stem cells in a state associated with deep quiescence

article Full Text OpenAlex

PLD3 and PLD4 synthesizeS,S-BMP, a key phospholipid enabling lipid degradation in lysosomes

preprint Full Text OpenAlex

Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study—determination of immunogenicity

letter Full Text OpenAlex

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series

article Full Text OpenAlex

The role of tubular cells in the pathogenesis of Fabry nephropathy

article Full Text OpenAlex

Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study

article Full Text OpenAlex

Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status

review Full Text OpenAlex

Advances in Immune Tolerance Induction in Enzyme Replacement Therapy

article Full Text OpenAlex

近5年高被引文献
Parkinson's disease

review Full Text OpenAlex 2996 FWCI278.57936438

Prodromal Parkinson disease subtypes — key to understanding heterogeneity

review Full Text OpenAlex 376 FWCI37.45148786

A phosphoinositide signalling pathway mediates rapid lysosomal repair

article Full Text OpenAlex 295 FWCI48.32175208

A Comprehensive Review: Sphingolipid Metabolism and Implications of Disruption in Sphingolipid Homeostasis

review Full Text OpenAlex 276 FWCI17.06817477

Cardiac Involvement in Fabry Disease

review Full Text OpenAlex 268 FWCI30.67182046

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

article Full Text OpenAlex 261 FWCI46.48955954

PINK1/Parkin-mediated mitophagy in neurodegenerative diseases

review Full Text OpenAlex 257 FWCI57.67635334

Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson’s disease

article Full Text OpenAlex 220 FWCI37.86441918

GBA Variants and Parkinson Disease: Mechanisms and Treatments

review Full Text OpenAlex 210 FWCI37.87373383

The rapidly evolving view of lysosomal storage diseases

review Full Text OpenAlex 208 FWCI26.51834477