Cargando…

Uridine Treatment of the First Known Case of SLC25A36 Deficiency

SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In human beings, diseases triggered by SLC25A36 mutati...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jasper, Luisa, Scarcia, Pasquale, Rust, Stephan, Reunert, Janine, Palmieri, Ferdinando, Marquardt, Thorsten
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470663/ https://www.ncbi.nlm.nih.gov/pubmed/34576089 http://dx.doi.org/10.3390/ijms22189929

Ejemplares similares

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
por: Palmieri, Ferdinando, et al.
Publicado: (2020)

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
por: Quitmann, Christina M., et al.
Publicado: (2021)

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
por: Marquardt, Thorsten, et al.
Publicado: (2020)

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
por: Taday, Roman, et al.
Publicado: (2020)

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report
por: Belkheir, Aziza Miriam, et al.
Publicado: (2021)

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening()
por: Reunert, Janine, et al.
Publicado: (2015)

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)
por: Kemme, Lisa, et al.
Publicado: (2021)

Limitations of galactose therapy in phosphoglucomutase 1 deficiency
por: Nolting, Kristine, et al.
Publicado: (2017)

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
por: Kishita, Yoshihito, et al.
Publicado: (2015)

Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import
por: Girardi, Enrico, et al.
Publicado: (2020)

Mannose supplementation in PMM2-CDG
por: Taday, Roman, et al.
Publicado: (2021)

Welcome to the Family: Identification of the NAD(+) Transporter of Animal Mitochondria as Member of the Solute Carrier Family SLC25
por: Ziegler, Mathias, et al.
Publicado: (2021)

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
por: Chaouch, Amina, et al.
Publicado: (2014)

Palladium-catalyzed C–H olefination of uridine, deoxyuridine, uridine monophosphate and uridine analogues
por: Zhao, Qin, et al.
Publicado: (2022)

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation
por: Goubert, Emmanuelle, et al.
Publicado: (2017)

The Mitochondrial Carnitine Acyl-carnitine Carrier (SLC25A20): Molecular Mechanisms of Transport, Role in Redox Sensing and Interaction with Drugs
por: Tonazzi, Annamaria, et al.
Publicado: (2021)

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
por: van Stein, Christina, et al.
Publicado: (2021)

A Patient With CAD Deficiency Responsive to Uridine and Literature Review
por: Zhou, Ling, et al.
Publicado: (2020)

Indispensable residue for uridine binding in the uridine-cytidine kinase family
por: Tomoike, Fumiaki, et al.
Publicado: (2017)

Changes in Mitochondrial Carriers Exhibit Stress-Specific Signatures in INS-1Eβ-Cells Exposed to Glucose Versus Fatty Acids
por: Brun, Thierry, et al.
Publicado: (2013)

The Legionella pneumophila effector Lpg1137 is a homologue of mitochondrial SLC25 carrier proteins, not of known serine proteases
por: Gradowski, Marcin, et al.
Publicado: (2017)

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
por: Klank, Sabrina, et al.
Publicado: (2023)

Effect of uridine protecting groups on the diastereoselectivity of uridine-derived aldehyde 5’-alkynylation
por: Ben Othman, Raja, et al.
Publicado: (2017)

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
por: Ersoy Tunalı, Nagehan, et al.
Publicado: (2014)

Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort
por: Rosenthal, Elisabeth A., et al.
Publicado: (2021)

Protocol for UVC uridine actinometry
por: Pousty, Dana, et al.
Publicado: (2022)

Vitamin D deficiency and supplementation in critical illness—the known knowns and known unknowns
por: Nair, Priya, et al.
Publicado: (2018)

Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency
por: Zhou, Ling, et al.
Publicado: (2020)

SLC25A1, or CIC, is a novel transcriptional target of mutant p53 and a negative tumor prognostic marker
por: Kolukula, Vamsi K., et al.
Publicado: (2014)

A Theoretical Study of Hydrogen Abstraction Reactions in Guanosine and Uridine
por: Schaltz, Kasper F., et al.
Publicado: (2023)

Deficiency of malate-aspartate shuttle component SLC25A12 induces pulmonary metastasis
por: Alkan, H. Furkan, et al.
Publicado: (2020)

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
por: Welford, Richard W. D., et al.
Publicado: (2014)

Visualization of the Nucleolus Using Ethynyl Uridine
por: Dvořáčková, Martina, et al.
Publicado: (2018)

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes
por: DeRycke, Melissa S., et al.
Publicado: (2017)

Slc25a39 and Slc25a40 Expression in Mice with Bile Duct Ligation or Lipopolysaccharide Treatment
por: Kawase, Atsushi, et al.
Publicado: (2022)

L-Fucose treatment of FUT8-CDG
por: Park, Julien H., et al.
Publicado: (2020)

Enzymatic Redox Cascade for One-Pot Synthesis of Uridine 5′-Diphosphate Xylose from Uridine 5′-Diphosphate Glucose
por: Eixelsberger, Thomas, et al.
Publicado: (2014)

On uridine transport in human red blood cells
Publicado: (1977)

The Role of Uridine Adenosine Tetraphosphate in the Vascular System
por: Matsumoto, Takayuki, et al.
Publicado: (2011)

Uridine Prevents Fenofibrate-Induced Fatty Liver
por: Le, Thuc T., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_4jmb1nsf7uhnvgea0q4iutff3f