The selectivity and specificity of autophagy in drosophila [PDF]
, 2012 Autophagy is a process of cellular self-degradation and is a major pathway for elimination of cytoplasmic material by the lysosomes. Autophagy is responsible for the degradation of damaged organelles and protein aggregates and therefore plays a ...
Chou +27 more
core +2 more sources
Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice [PDF]
, 2015 Glycogen, the repository of glucose in many cell types, contains small amounts of covalent phosphate, of uncertain function and poorly understood metabolism.
DePaoli-Roach, Anna A. +5 more
core +1 more source
Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases [PDF]
, 2022 Glycogen storage diseases (GSDs) are rare metabolic monogenic disorders characterized by an excessive accumulation of glycogen in the cell. However, monogenic disorders are not simple regarding genotype-phenotype correlation.
Anđelković, Marina +6 more
core +1 more source
Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]
, 2018 Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S. +4 more
core +2 more sources
The “sweet” side of ER-mitochondria contact sites
Communicative & Integrative Biology, 2017 The regions at which the ER and mitochondria come into close proximity, known as ER-mitochondria contact sites provide essential platforms for the exchange of molecules between the two organelles and the coordination of various fundamental cellular ...
Anthi Demetriadou +2 more
doaj +1 more source
Glycogen and its metabolism: some new developments and old themes [PDF]
, 2012 Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of extensive investigation and much is known about its regulation by ...
Depaoli-Roach, Anna A. +3 more
core +1 more source
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]
, 2019 Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan +13 more
core +5 more sources
Rare variant collapsing in conjunction with mean log p-value and gradient boosting approaches applied to Genetic Analysis Workshop 17 data [PDF]
, 2011 In addition to methods that can identify common variants associated with susceptibility to common diseases, there has been increasing interest in approaches that can identify rare genetic variants.
Yauheniya Cherkas +4 more
core +1 more source
Journal of Cellular and Molecular Medicine, Volume 24, Issue 13, Page 7254-7265, July 2020., 2020 Abstract Salt‐sensitive hypertension (SSH) is an independent risk factor for cardiovascular disease. The regulation of long non‐coding RNAs, mRNAs and competing endogenous RNAs (ceRNAs) in the pathogenesis of SSH is uncertain. An RNA microarray was performed to discover SSH‐associated differentially expressed lncRNAs (DElncRNAs) and mRNAs (DEmRNAs ...
Ling Zhang +8 more
wiley +1 more source
Glycogen phosphorylation and Lafora disease [PDF]
, 2015 Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through the work of the Whelan laboratory in the 1990s. But glycogen phosphorylation lay fallow until interest was rekindled in the mid 2000s by the finding that ...
Roach, Peter J.
core +1 more source