Associated Papers
Pharmacological Inhibition of SLC33A1 Promotes Endoplasmic Reticulum Hyperoxidation and Induces Adaptive IRE1/XBP1s Signaling.
Kutseikin S et al.
Biorxiv : the Preprint Server for Biology, 2026
Acetyl-CoA availability regulates neuronal metabolism, growth, and synaptic activity.
McGregor ER et al.
Biorxiv : the Preprint Server for Biology, 2026
Increased expression of ATase1/NAT8B or ATase2/NAT8 in the mouse results in an autistic-like phenotype with altered dendritic branching and spine formation.
Kalimuthu B et al.
Molecular Psychiatry, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Intracellular Citrate/acetyl-CoA flux and endoplasmic reticulum acetylation: Connectivity is the answer.
Fernandez-Fuente G et al.
Molecular Metabolism, 2023
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.
Šikić K et al.
Journal of Inherited Metabolic Disease, 2022
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
ATase inhibition rescues age-associated proteotoxicity of the secretory pathway.
Murie M et al.
Communications Biology, 2022
Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.
Kirk FT et al.
Frontiers in Neurology, 2022
ATG9A regulates proteostasis through reticulophagy receptors FAM134B and SEC62 and folding chaperones CALR and HSPB1.
Sheehan BK et al.
Iscience, 2021
Endoplasmic reticulum acetyltransferases Atase1 and Atase2 differentially regulate reticulophagy, macroautophagy and cellular acetyl-CoA metabolism.
Rigby MJ et al.
Communications Biology, 2021
Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway.
Dieterich IA et al.
Scientific Reports, 2021
Deficient Endoplasmic Reticulum Acetyl-CoA Import in Pancreatic Acinar Cells Leads to Chronic Pancreatitis.
Cooley MM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2021
Regulation of coenzyme A levels by degradation: the 'Ins and Outs'.
Naquet P et al.
Progress in Lipid Research, 2020
Lipids in the Physiopathology of Hereditary Spastic Paraplegias.
Darios F et al.
Frontiers in Neuroscience, 2020
Acetyl-CoA flux regulates the proteome and acetyl-proteome to maintain intracellular metabolic crosstalk.
Dieterich IA et al.
Nature Communications, 2019
Nε-lysine acetylation in the endoplasmic reticulum - a novel cellular mechanism that regulates proteostasis and autophagy.
Farrugia MA et al.
Journal of Cell Science, 2018
Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype.
Peng Y et al.
Aging Cell, 2018
BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation.
Jardin N et al.
Development (cambridge, England), 2018
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
The Regulatory Effects of Acetyl-CoA Distribution in the Healthy and Diseased Brain.
Ronowska A et al.
Frontiers in Cellular Neuroscience, 2018
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.
Liu P et al.
Disease Models & Mechanisms, 2017
Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation.
Hullinger R et al.
The Journal of Experimental Medicine, 2016
Nϵ-lysine acetylation in the lumen of the endoplasmic reticulum: A way to regulate autophagy and maintain protein homeostasis in the secretory pathway.
Peng Y et al.
Autophagy, 2016
The Increasing Importance of Gene-Based Analyses.
Cirulli ET
Plos Genetics, 2016
Improved proteostasis in the secretory pathway rescues Alzheimer's disease in the mouse.
Peng Y et al.
Brain : a Journal of Neurology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
Mao F et al.
Human Mutation, 2015
Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer.
Peng Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P et al.
American Journal of Human Genetics, 2012
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.
Lin P et al.
Prenatal Diagnosis, 2010
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
Lin P et al.
American Journal of Human Genetics, 2008
The acetyl-CoA transporter family SLC33.
Hirabayashi Y et al.
Molecular Aspects of Medicine, 0
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.
Martinello C et al.
Expert Review of Proteomics, 0