title: Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
authors.forename: F
authors.initials: F
authors.lastname: Tort
authors.forename: M
authors.initials: M
authors.lastname: Del Toro
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: J
authors.initials: J
authors.lastname: Montoya
authors.forename: M
authors.initials: M
authors.lastname: Fernàndez-Burriel
authors.forename: A
authors.initials: A
authors.lastname: Font
authors.forename: N
authors.initials: N
authors.lastname: Buján
authors.forename: A
authors.initials: A
authors.lastname: Navarro-Sastre
authors.forename: E
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: J A
authors.initials: JA
authors.lastname: Arranz
authors.forename: E
authors.initials: E
authors.lastname: Riudor
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: A
authors.initials: A
authors.lastname: Ribes
mesh_terms: D025181:ATP Synthetase Complexes / Q000172:deficiency / Q000235:genetics*; D000138:Acidosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006332:Cardiomegaly / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005977:Glutarates / Q000378:metabolism*; D017506:H(+)-K(+)-Exchanging ATPase / Q000172:deficiency / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000172:deficiency / Q000235:genetics*; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D000097795:ATPase Inhibitory Protein
chemical_list: D025181:ATP Synthetase Complexes; D005977:Glutarates; D017506:H(+)-K(+)-Exchanging ATPase; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; D000097795:ATPase Inhibitory Protein; C533106:TMEM70 protein, human; C022034:3-methylglutaconic acid; C088641:ATP12A protein, human