Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
MC Nurchis, G Altamura, MT Riccardi, FC Radio… - Archives of Public …, 2023 - Springer
Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
AGC1 deficiency: pathology and molecular and cellular mechanisms of the disease
B Pardo, E Herrada-Soler, J Satrústegui… - International Journal of …, 2022 - mdpi.com
AGC1/Aralar/Slc25a12 is the mitochondrial carrier of aspartate-glutamate, the regulatory
component of the NADH malate-aspartate shuttle (MAS) that transfers cytosolic redox power …
component of the NADH malate-aspartate shuttle (MAS) that transfers cytosolic redox power …
Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier
BK Bölsterli, E Boltshauser, L Palmieri, J Spenger… - Nutrients, 2022 - mdpi.com
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic
NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such …
NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such …
[HTML][HTML] Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
GF Vogel, Y Mozer-Glassberg, YE Landau… - Genetics in …, 2023 - Elsevier
Purpose This study aimed to define the genotypic and phenotypic spectrum of reversible
acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and …
acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and …
Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP)
MTU1 controls intramitochondrial protein synthesis by catalyzing the 2-thiouridine
modification of mitochondrial transfer RNAs (mt-tRNAs). Missense mutations in the MTU1 …
modification of mitochondrial transfer RNAs (mt-tRNAs). Missense mutations in the MTU1 …
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
Background: Inborn errors of metabolism are rare genetic disorders; however, these are
prevalent in countries with high consanguinity rates, like Lebanon. Patients are suspected …
prevalent in countries with high consanguinity rates, like Lebanon. Patients are suspected …
[HTML][HTML] Inborn errors of the malate aspartate shuttle–Update on patients and cellular models
J Koch, MH Broeks, M Gautschi, J Jans… - Molecular genetics and …, 2024 - Elsevier
The malate aspartate shuttle (MAS) plays a pivotal role in transporting cytosolic reducing
equivalents–electrons–into the mitochondria for energy conversion at the electron transport …
equivalents–electrons–into the mitochondria for energy conversion at the electron transport …
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Background: Mitochondrial diseases are the most common group of inherited metabolic
disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity …
disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity …
A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10
Q Luo, X Wen, J Zhou, Y Chen, Z Lv, X Shen, J Liu - Clinica Chimica Acta, 2021 - Elsevier
Background The mitochondrial tRNA translation optimization 1 (MTO1) gene, which is
closely related to defective mitochondrial oxidative phosphorylation, is an evolutionarily …
closely related to defective mitochondrial oxidative phosphorylation, is an evolutionarily …
[PDF][PDF] Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 2022, 14, 3605
BK Bölsterli, E Boltshauser, L Palmieri, J Spenger… - 2022 - zora.uzh.ch
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic
NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such …
NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such …