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Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
View Article and Find Full Text PDFDeconstructing delay discounting in human cocaine addiction using computational modelling and neuroimaging.
Biol Psychiatry Cogn Neurosci Neuroimaging
December 2024
Department of Psychiatry, University of Cambridge, Cambridge, UK; Department of Systems Neuroscience, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Addictive Behaviour and Addiction Medicine, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany. Electronic address:
Background: A preference for sooner-smaller over later-larger rewards, known as delay discounting, is a candidate transdiagnostic marker of waiting impulsivity and a research domain criterion. While abnormal discounting rates have been associated with many psychiatric diagnoses and abnormal brain structure, the underlying neuropsychological processes remain largely unknown. Here, we deconstruct delay discounting into choice and rate processes by testing different computational models and investigate their associations with white matter tracts.
View Article and Find Full Text PDFProgressive structural alterations associated with negative symptoms in schizophrenia: A causal structural covariance network analysis.
Prog Neuropsychopharmacol Biol Psychiatry
December 2024
Department of Geriatric Psychiatry, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Backgrounds: Aberrant brain structures in schizophrenia have been widely explored. However, the causal effects of negative symptoms on brain structural alterations are still unclear. This study aims to explore the synchronous and progressive alterations in gray matter volume (GMV) associated with negative symptoms.
View Article and Find Full Text PDFDisorder within order: identification of the disordered loop of STAS domain as the inhibitory domain in SLC26A9 chloride channel.
J Biol Chem
December 2024
Physiology & Biomedical Engineering, Mayo Clinic College of Medicine & Science, Rochester, MN, 55906; Nephrology & Hypertension, Mayo Clinic College of Medicine & Science, Rochester, MN, 55906. Electronic address:
The chloride transporter-channel SLC26A9 is mediated by a reciprocal regulatory mechanism through the interaction between its cytoplasmic STAS domain and the R domain of CFTR. In vertebrate Slc26a9s, the STAS domain structures are interrupted by a disordered loop which is conserved in mammals but is variable in non-mammals. Despite the numerous studies involving the STAS domains in SLC26 proteins, the role of the disordered loop region has not been identified.
View Article and Find Full Text PDFImpairment of white matter microstructure and structural network in patients with systemic lupus erythematosus.
Semin Arthritis Rheum
December 2024
Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, China. Electronic address:
Objective: The study aimed to investigate the damage of white matter (WM) microstructure and structural network in patients with systemic lupus erythematosus (SLE) using diffusion tensor imaging.
Methods: Tract-based spatial statistics (TBSS) were used to compare the difference in WM fractional anisotropy (FA) between SLE and HCs groups. The differences in WM networks between groups are compared using graph theory.
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