Results 51 to 60 of about 1,678 (140)
Regional Mitochondrial Density Maps Selective Posterior Atrophy in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Mitochondrial dysfunction has been implicated in the pathobiology of Parkinson's disease (PD), yet the spatial relationship between regional energetic demand and patterns of neurodegeneration remains poorly understood, limiting mechanistic insight and development of disease‐modifying therapies.
Ajay Konuri +7 more
wiley +1 more source
Fifteen novel mutations in the SLC25A13 gene of citrin-deficient patients from different countries.
, 2013 The bold black letters denote the novel mutations, “N” indicates the normal SLC25A13 allele, while “–” means not analyzed. The effects and frequency refer to the corresponding novel mutations. The frequency was calculated based on the screening result by
Mei Deng (460870) +16 more
core +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.
, 2013 In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-translation initiation codon.
Mei Deng (460870) +16 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2692-2707, December 2026.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
, 2017 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS ...
Chun-Ting Lu +4 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Slc25a13 Gene Mutations in Taiwanese Patients with Non-Viral Hepatocellular Carcinoma
, 2012 Mutations of the SLC25A13 gene, which encodes citrin, result in adult- onset type II citrullinemia CTLN2. Because CTLN2 has been associated with hepatocellular carcinoma HCC and may be involved in hepatocarcinogenesis, the objective of this study was to ...
CHANG, KUEI-WEN;CHEN, HUEY-LING;CHIEN, YIN-HSIU;CHEN, TSE-CHING +1 more
core +1 more source
Redox Biology, 2023 N-acetylaspartate (NAA) is synthesized by the mitochondrial enzyme NAT8L, which uses acetyl-CoA and aspartate as substrates. These metabolites are fundamental for bioenergetics and anabolic requirements of highly proliferating cells, thus, NAT8L ...
Pamela De Falco +7 more
doaj +1 more source
SLC25A13 gene analysis in the family with a NICCD infant.
, 2014 The electrophoresis on the left illustrated the screening of the c.615+5G>A mutation by mean of a PCR-RFLP approach. The PCR products using the primer pair IVS5NF (5′-tgagggcttgttagatcaagat-3′) and IVS6NB (5′-ttacccagacaacaaattaacct-3′) were digested by ...
Yuan-Zong Song (460866) +6 more
core +1 more source