Lysosomal Storage Disease

Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.

October 22, 2020

The role of saturated fatty acids in impaired lipid metabolism in patients with alcohol dependence syndrome

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
V A SolovievaA G Soloviev
October 27, 2020
Open Access

GBA -Associated Synucleinopathies: Prime Candidates for Alpha-Synuclein Targeting Compounds

Frontiers in Cell and Developmental Biology
Kathrin Brockmann
October 22, 2020
Open Access

Development and validation of a novel prognostic model for predicting AMD progression using longitudinal fundus images

BMJ Open Ophthalmology
Joshua BridgeYalin Zheng
October 26, 2020
Preprint
Open Access

Disparate Bone Anabolic Cues Activate Bone Formation by Regulating the Rapid Lysosomal Degradation of Sclerostin Protein

BioRxiv : the Preprint Server for Biology
N. R. GouldJoseph P Stains
October 28, 2020
Review
Open Access

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

International Journal of Molecular Sciences
Noelia BenetóIsaac Canals
October 23, 2020

Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I

European Review for Medical and Pharmacological Sciences
Z-J ZhangZ-Q Qiu
October 23, 2020

Cytotoxic activity induced by the alkaloid extract from Ipomoea carnea on primary murine mixed glial cultures

Toxicon : Official Journal of the International Society on Toxinology
Luciana Andrea CholichSoledad Bustillo
October 28, 2020

Disease Progression in Patients with Parkin-Related Parkinson's Disease in a Longitudinal Cohort

Movement Disorders : Official Journal of the Movement Disorder Society
Yi-Min SunJian Wang
October 28, 2020
Preprint
Open Access

Medical students’ self-reported gender discrimination and sexual harassment over time

ResearchSquare
Marta Alina KisielAnna Rask-Andersen
October 23, 2020

The time has come to look for metabolic-dysfunction associated fatty liver disease in adult patients with type 1 gaucher disease

Liver International : Official Journal of the International Association for the Study of the Liver
Fabio NascimbeniFrancesca Carubbi
October 24, 2020

Dipyridamole Inhibits Lipogenic Gene Expression by Retaining SCAP-SREBP in the Endoplasmic Reticulum

Cell Chemical Biology
Ryan M EsquejoTimothy F Osborne

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