Results 111 to 120 of about 90,357 (220)

Inhibition of PIKfyve Leads to Lysosomal Disorders via Dysregulation of mTOR Signaling

Cells
PIKfyve is an endosomal lipid kinase that synthesizes phosphatidylinositol 3,5-biphosphate from phosphatidylinositol 3-phsphate. Inhibition of PIKfyve activity leads to lysosomal enlargement and cytoplasmic vacuolation, attributed to impaired lysosomal ...
Jianhong Xia, Haiyun Wang, Zhihang Zhong, Jun Jiang   +3 more
doaj   +1 more source

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders [PDF]

, 2011
Carla E. M. Hollak, Johannes M. F. G. Aerts, Ségolène Aymé, Jeremy Manuel   +3 more
openalex   +1 more source

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia [PDF]

, 2020
María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Súarez, Ángela J. Espejo, Johana Guevara, Olga Yaneth Echeverri-Peña, Daniela Solano-Galarza, Alfredo Uribe, Carlos Javier Alméciga-Díaz   +9 more
openalex   +1 more source

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

Frontiers in Pharmacology, 2017
Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying ...
Fedah E. Mohamed, L. Al-Gazali, F. Al-Jasmi, B. Ali   +3 more
semanticscholar   +1 more source

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype

Current Issues in Molecular Biology
Background/Objectives: Fabry disease is an X-linked lysosomal storage disorder. It is characterised by impaired metabolism of glycosphingolipids whose accumulation causes irreversible organ damage and life-threatening complications.
Jatinder Singh, Paramala Santosh, Uma Ramaswami   +2 more
doaj   +1 more source

Golgi defect as a major contributor to lysosomal dysfunction

Frontiers in Cell and Developmental Biology
The Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj   +1 more source

PEG-lipid micelles enable cholesterol efflux in Niemann-Pick Type C1 disease-based lysosomal storage disorder [PDF]

, 2016
Anna Brown, Siddharth Patel, Carl Ward, Anna St Lorenz, Mauren Ortiz, Allison N. DuRoss, Fabian Wieghardt, Amanda Esch, Elsje G. Otten, Laura M. Heiser, Viktor I. Korolchuk, Conroy Sun, Sovan Sarkar, Gaurav Sahay   +13 more
openalex   +1 more source

MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis

Expert Reviews in Molecular Medicine
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and ...
Yuwen Han, Yuanshuai Zhou, Jinlin Pan, Minxuan Sun, Jiao Yang   +4 more
doaj   +1 more source

Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model

Nature Communications, 2017
Lysosomal acidification defects have been implicated in various neurodegenerative disorders. Baghet al. show that the V0a1 subunit of v-ATPase requires palmitoylation for correct sorting and trafficking to the lysosome membrane, and that such a process ...
Maria B. Bagh, Shiyong Peng, Goutam Chandra, Zhongjian Zhang, Satya P. Singh, Nagarajan Pattabiraman, Aiyi Liu, Anil B. Mukherjee   +7 more
doaj   +1 more source

The metabolism of APP protein in lysosomal storage disorders [PDF]

, 2009
Nedavna istraživanja su pokazala da povišena razina kolesterola može mijenjati cijepanje prekursora proteina amiloid-beta (APP) i utjecati na nakupljanje peptida amiloid-beta (Aβ), glavne patološke značajke Alzheimerove bolesti (AB).
Posavec, Melanija
core   +1 more source