Results 31 to 40 of about 3,656,183 (130)

Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq

Advanced Medical Journal, 2023
Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf, Bakir Rahim, Khalid Hama Salih, Jamal Ahmad Rasheed, Adnan Mohammed Hasan   +4 more
doaj   +1 more source

Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]

, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
core   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

Romanian Journal of Pediatrics, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj   +1 more source

Rheumatologic Manifestations of Lysosomal Storage Diseases [PDF]

, 2012
How to Cite this Article: Shiari R, VAdood Javadi P. Rheumatologic Manifestations of Lysosomal Storage Diseases. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 20. Pls see PDF.
SHIARI, Reza, JAVADI PARVANEH, Vadood
core   +1 more source

Identification of active natural products that induce lysosomal biogenesis by lysosome-based screening and biological evaluation

Heliyon, 2022
Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding, Xu Yang, Yueqin Zhao, Yinyuan Wang, Jimin Fei, Zhenpeng Niu, Xianxiang Dong, Xuenan Wang, Biao Liu, Hongmei Li, Xiaojiang Hao, Yuhan Zhao   +11 more
doaj   +1 more source

SnapShot: Lysosomal Storage Diseases

Cell, 2020
Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs.
José A, Martina, Nina, Raben, Rosa, Puertollano   +2 more
openaire   +2 more sources

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship

Egyptian Journal of Medical Human Genetics, 2022
Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
doaj   +1 more source

Neuroinflammatory paradigms in lysosomal storage diseases

Frontiers in Neuroscience, 2015
Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs ...
Megan Elizabeth Bosch, Tammy eKielian
doaj   +1 more source

Modeling Lysosomal Storage Diseases in the Zebrafish

Frontiers in Molecular Biosciences, 2020
Lysosomal storage diseases (LSDs) are a family of 70 metabolic disorders characterized by mutations in lysosomal proteins that lead to storage material accumulation, multiple-organ pathologies that often involve neurodegeneration, and early mortality in ...
T. Zhang, R. T. Peterson
doaj   +1 more source

Synaptic Function and Dysfunction in Lysosomal Storage Diseases

Frontiers in Cellular Neuroscience, 2021
Lysosomal storage diseases (LSDs) with neurological involvement are inherited genetic diseases of the metabolism characterized by lysosomal dysfunction and the accumulation of undegraded substrates altering glial and neuronal function.
Rima Rebiai, Maria I. Givogri, Swetha Gowrishankar, Stephania M. Cologna, Simon T. Alford, Ernesto R. Bongarzone   +5 more
doaj   +1 more source