Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample [PDF]
Kidney International ReportsIntroduction: Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain Containing 158 (CCDC158), and Shroom ...
Dariush Ghasemi-Semeskandeh +11 more
doaj +2 more sources
Genetics of Neurogenic Orthostatic Hypotension in Parkinson’s Disease, Results from a Cross-Sectional In Silico Study [PDF]
Brain Sciences, 2023 The genetic basis of Neurogenic Orthostatic Hypotension (NOH) in Parkinson’s disease (PD) has been inadequately explored. In a cross-sectional study, we examined the association between NOH and PD-related single-nucleotide polymorphisms (SNPs) and mapped
Guenson Chevalier +7 more
doaj +3 more sources
Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib [PDF]
Molecular MetabolismObjective: Carbohydrate Response Element Binding Protein (ChREBP) is a glucose 6-phosphate (G6P)-sensitive transcription factor that acts as a metabolic switch to maintain intracellular glucose and phosphate homeostasis.
K.A. Krishnamurthy +13 more
doaj +2 more sources
Caracterización de la interacción entre Stbd1 y Laforina. Determinación de su posible papel para el desarrollo de la enfermedad de Lafora [PDF]
, 2015 [ES] La línea fundamental de trabajo de este laboratorio consiste en la caracterización molecular de rutas fisiológicas alteradas en la enfermedad de Lafora, así como posibles tratamientos de la enfermedad. La enfermedad de Lafora (LD. OMIM 254780) es una enfermedad neurodegenerativa autosómica recesiva que conlleva epilepsia mioclónica progresiva y ...
García Castiglioni, María Victoria
openaire +3 more sources
New Toolset of Reporters Reveals That Glycogen Granules Are Neutral Substrates of Bulk Autophagy in <i>Komagataella phaffii</i>. [PDF]
Int J Mol SciGlycogen, a branched polysaccharide organized into glycogen granules (GGs), is delivered from the cytoplasm to the lysosomes of hepatocytes by STBD1-driven selective autophagy (glycophagy).
Wijewantha NV +4 more
europepmc +2 more sources
iCAL: a new pipeline to investigate autophagy selectivity and cancer [PDF]
Autophagy, 2021 Weizhi Zhang, Yu Xue, Da Jia
exaly +2 more sources
Animal Models and Experimental Medicine, Volume 6, Issue 4, Page 294-305, August 2023., 2023 In this study, 15 differential genes which associated with bone development, regeneration and pathogenesis of osteoarthritis through literature reading were selected for QPCR verification. The up‐regulation or down‐regulation trend of 14 candidate genes was consistent with the results of transcriptome sequencing.
Lei Xiang +7 more
wiley +1 more source
Targeting the Lysosomal Degradation of Rab22a‐NeoF1 Fusion Protein for Osteosarcoma Lung Metastasis
Advanced Science, Volume 10, Issue 5, February 14, 2023., 2023 In osteosarcoma cells, Rab22a‐NeoF1 fusion protein can be polyubiquitinated at lysine112 via the K63‐linked ubiquitin chains and then be recognized by autophagy receptor NDP52, leading to the lysosomal degradation of Rab22a‐NeoF1. This process is promoted by PINK1 kinase via phosphorylating Rab22a‐NeoF1 at serine120, and Sorafenib and Regorafenib can ...
Cuiling Zeng +8 more
wiley +1 more source
ALTEN: A High‐Fidelity Primary Tissue‐Engineering Platform to Assess Cellular Responses Ex Vivo
Advanced Science, Volume 9, Issue 21, July 25, 2022., 2022 Alginate‐based tissue engineering (ALTEN) enables three‐dimensional (3D) ex vivo culture of explanted tissue biopsies. This method recapitulates the original characteristics of the source tissue's cellular niches with high‐fidelity, including cellular diversity, extracellular matrix (ECM), and their molecular milieu.
Andrew M. K. Law +24 more
wiley +1 more source
Molecular Ecology Resources, Volume 22, Issue 2, Page 740-754, February 2022., 2022 Abstract The 15 species of small carnivorous marsupials that comprise the genus Antechinus exhibit semelparity, a rare life‐history strategy in mammals where synchronized death occurs after one breeding season. Antechinus males, but not females, age rapidly (demonstrate organismal senescence) during the breeding season and show promise as new animal ...
Ran Tian +19 more
wiley +1 more source