Agius L, Wright PD, Alberti KG (1987) Carnitine acyltransferases and acyl-CoA hydrolases in human and rat liver. Clin Sci (Lond) 73:3–10. https://doi.org/10.1042/cs0730003
Article PubMed CAS Google Scholar
Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M (2019) Spectrum of mutations underlying propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Mol Genet Metab Rep 18:22–29. https://doi.org/10.1016/j.ymgmr.2018.12.004
Article PubMed PubMed Central CAS Google Scholar
Alexson SE, Nedergaard J (1988) A novel type of short- and medium-chain acyl-CoA hydrolases in brown adipose tissue mitochondria. J Biol Chem 263:13564–13571
Alonso-Barroso E, Perez B, Desviat LR, Richard E (2021) Cardiomyocytes derived from induced pluripotent stem cells as a disease model for propionic acidemia. Int J Mol Sci. https://doi.org/10.3390/ijms22031161
Article PubMed PubMed Central Google Scholar
Alvarez M, Ruiz-Sala P, Perez B, Desviat LR, Richard E (2023) Dysregulated cell homeostasis and miRNAs in human iPSC-derived cardiomyocytes from a propionic acidemia patient with cardiomyopathy. Int J Mol Sci. https://doi.org/10.3390/ijms24032182
Article PubMed PubMed Central Google Scholar
Amaral AU, Cecatto C, Castilho RF, Wajner M (2016) 2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria. J Neurochem 137:62–75. https://doi.org/10.1111/jnc.13544
Article PubMed CAS Google Scholar
Bodi I, Grunert SC, Becker N, Stoelzle-Feix S, Spiekerkoetter U, Zehender M, Bugger H, Bode C, Odening KE (2016) Mechanisms of acquired long QT syndrome in patients with propionic academia. Heart Rhythm 13:1335–1345. https://doi.org/10.1016/j.hrthm.2016.02.003
Brunengraber H, Roe CR (2006) Anaplerotic molecules: current and future. J Inherit Metab Dis 29:327–331. https://doi.org/10.1007/s10545-006-0320-1
Chalmers RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res 18:1325–1328. https://doi.org/10.1203/00006450-198412000-00021
Article PubMed CAS Google Scholar
Chandler RJ, Chandrasekaran S, Carrillo-Carrasco N, Senac JS, Hofherr SE, Barry MA, Venditti CP (2011) Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia. Hum Gene Ther 22:477–481. https://doi.org/10.1089/hum.2010.164
Article PubMed CAS Google Scholar
Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ (2018) Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in caenorhabditis elegans globally impair mitochondrial energy metabolism. J Inherit Metab Dis 41:157–168. https://doi.org/10.1007/s10545-017-0111-x
Article PubMed CAS Google Scholar
Cheema-Dhadli S, Leznoff CC, Halperin ML (1975) Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. Pediatr Res 9:905–908. https://doi.org/10.1203/00006450-197512000-00008
Article PubMed CAS Google Scholar
Davila-Roman VG, Vedala G, Herrero P, de las Fuentes L, Rogers JG, Kelly DP, Gropler RJ (2002) Altered myocardial fatty acid and glucose metabolism in idiopathic dilated cardiomyopathy. J Am Coll Cardiol 40:271–277. https://doi.org/10.1016/s0735-1097(02)01967-8
Article PubMed CAS Google Scholar
Di Donato S, Rimoldi M, Garavaglia B, Uziel G (1984) Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 139:13–21. https://doi.org/10.1016/0009-8981(84)90187-6
Duran M, Ketting D, Beckeringh TE, Leupold D, Wadman SK (1986) Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation. J Inherit Metab Dis 9:202–207. https://doi.org/10.1007/BF01799460
Article PubMed CAS Google Scholar
Fernandez CA, Des Rosiers C, Previs SF, David F, Brunengraber H (1996) Correction of 13C mass isotopomer distributions for natural stable isotope abundance. J Mass Spectrom 31:255–262. https://doi.org/10.1002/(SICI)1096-9888(199603)31:3%3c255::AID-JMS290%3e3.0.CO;2-3
Article PubMed CAS Google Scholar
Fulgencio-Covian A, Alonso-Barroso E, Guenzel AJ, Rivera-Barahona A, Ugarte M, Perez B, Barry MA, Perez-Cerda C, Richard E, Desviat LR (2020) Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy. Transl Res 218:43–56. https://doi.org/10.1016/j.trsl.2019.12.004
Article PubMed CAS Google Scholar
Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, Venditti CP (1993) Propionic Acidemia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) GeneReviews((R)). Seattle (WA).
Gallego-Villar L, Perez-Cerda C, Perez B, Abia D, Ugarte M, Richard E, Desviat LR (2013) Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. J Inherit Metab Dis 36:731–740. https://doi.org/10.1007/s10545-012-9545-3
Article PubMed CAS Google Scholar
Gallego-Villar L, Rivera-Barahona A, Cuevas-Martin C, Guenzel A, Perez B, Barry MA, Murphy MP, Logan A, Gonzalez-Quintana A, Martin MA, Medina S, Gil-Izquierdo A, Cuezva JM, Richard E, Desviat LR (2016) In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: implications for the pathophysiology of this disorder. Free Radic Biol Med 96:1–12. https://doi.org/10.1016/j.freeradbiomed.2016.04.007
Article PubMed CAS Google Scholar
Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA (2013) Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing. Mol Ther 21:1316–1323. https://doi.org/10.1038/mt.2013.68
Article PubMed PubMed Central CAS Google Scholar
He W, Berthiaume JM, Previs S, Kasumov T, Zhang GF (2023) Ischemia promotes acyl-CoAs dephosphorylation and propionyl-CoA accumulation. Metabolomics 19:12. https://doi.org/10.1007/s11306-023-01975-2
Article PubMed PubMed Central CAS Google Scholar
He W, Marchuk H, Koeberl D, Kasumov T, Chen X, Zhang GF (2024) Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation. Commun Biol 7:659. https://doi.org/10.1038/s42003-024-06362-8
Article PubMed PubMed Central CAS Google Scholar
He W, Wang Y, Xie EJ, Barry MA, Zhang GF (2021) Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia. Mol Genet Metab 134:257–266. https://doi.org/10.1016/j.ymgme.2021.09.009
Article PubMed CAS Google Scholar
Hofherr SE, Senac JS, Chen CY, Palmer DJ, Ng P, Barry MA (2009) Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy. Hum Gene Ther 20:169–180. https://doi.org/10.1089/hum.2008.158
Article PubMed PubMed Central CAS Google Scholar
Hommes FA, Kuipers JR, Elema JD, Jansen JF, Jonxis JH (1968) Propionicacidemia, a new inborn error of metabolism. Pediatr Res 2:519–524. https://doi.org/10.1203/00006450-196811000-00010
Article PubMed CAS Google Scholar
Islam R, Anzai N, Ahmed N, Ellapan B, Jin CJ, Srivastava S, Miura D, Fukutomi T, Kanai Y, Endou H (2008) Mouse organic anion transporter 2 (mOat2) mediates the transport of short chain fatty acid propionate. J Pharmacol Sci 106:525–528. https://doi.org/10.1254/jphs.sc0070291
Article PubMed CAS Google Scholar
Kasumov T, Cendrowski AV, David F, Jobbins KA, Anderson VE, Brunengraber H (2007) Mass isotopomer study of anaplerosis from prop
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