Associated Papers
SLC25A19 is required for NADH homeostasis and mitochondrial respiration.
Jiang Z
Free Radical Biology & Medicine, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Chen Y et al.
Orphanet Journal of Rare Diseases, 2021
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Porta F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Bottega R et al.
Journal of Human Genetics, 2019
Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.
Gowda VK et al.
Neuropediatrics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Defects of thiamine transport and metabolism.
Brown G
Journal of Inherited Metabolic Disease, 2014
Amish microcephaly: Long-term survival and biochemical characterization.
Siu VM et al.
American Journal of Medical Genetics. Part A, 2010
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
Spiegel R et al.
Annals of Neurology, 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.
Prasad AN et al.
Congenital Anomalies, 2007
Functional and structural role of amino acid residues in the even-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier.
Cappello AR et al.
Journal of Molecular Biology, 2006
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Rosenberg MJ et al.
Nature Genetics, 2002
Diseases caused by defects of mitochondrial carriers: a review.
Palmieri F
Biochimica Et Biophysica Acta, 0
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0