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
近5年高被引文献
A phosphoinositide signalling pathway mediates rapid lysosomal repair

article Full Text OpenAlex 333 FWCI36.093

PINK1/Parkin-mediated mitophagy in neurodegenerative diseases

review Full Text OpenAlex 297 FWCI41.4742

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 268 FWCI30.6963

GBA Variants and Parkinson Disease: Mechanisms and Treatments

review Full Text OpenAlex 238 FWCI25.8554

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

article Full Text OpenAlex 236 FWCI28.2828

Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases

review Full Text OpenAlex 221 FWCI88.0503

Lysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology

review Full Text OpenAlex 211 FWCI55.342

Role of dopamine in the pathophysiology of Parkinson’s disease

review Full Text OpenAlex 208 FWCI43.5087

Trial of Deferiprone in Parkinson’s Disease

article Full Text OpenAlex 203 FWCI23.6735

Lysosomal dysfunction in neurodegeneration: emerging concepts and methods

review Full Text OpenAlex 196 FWCI22.0146