Pilar Rodriguez-Pombo
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Explore the profile of Pilar Rodriguez-Pombo including associated specialties, affiliations and a list of published articles.
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37
Citations
437
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Recent Articles
1.
Tejedor J, Soriano-Sexto A, Beccari L, Castejon-Fernandez N, Correcher P, Sainz-Ledo L, et al.
J Inherit Metab Dis
. 2024 Dec;
48(1):e12829.
PMID: 39659154
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine,...
2.
Arribas-Carreira L, Castro M, Garcia F, Navarrete R, Bravo-Alonso I, Zafra F, et al.
Int J Mol Sci
. 2024 Mar;
25(5).
PMID: 38474060
The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, a valid human neural model is essential....
3.
Herrero Martin J, Salegi Ansa B, Alvarez-Rivera G, Dominguez-Zorita S, Rodriguez-Pombo P, Perez B, et al.
Nat Metab
. 2024 Jan;
6(2):209-225.
PMID: 38243131
Coenzyme Q (Q) is a key lipid electron transporter, but several aspects of its biosynthesis and redox homeostasis remain undefined. Various flavoproteins reduce ubiquinone (oxidized form of Q) to ubiquinol...
4.
Musokhranova U, Grau C, Vergara C, Rodriguez-Pascau L, Xiol C, Castells A, et al.
J Transl Med
. 2023 Oct;
21(1):756.
PMID: 37884937
Background: Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in...
5.
Tangeraas T, Constante J, Backe P, Oyarzabal A, Neugebauer J, Weinhold N, et al.
Brain
. 2023 Feb;
146(7):3003-3013.
PMID: 36729635
There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder...
6.
Bravo-Alonso I, Morin M, Arribas-Carreira L, Alvarez M, Pedron-Giner C, Soletto L, et al.
J Inherit Metab Dis
. 2022 Dec;
46(2):261-272.
PMID: 36564894
Coenzyme A (CoA) is an essential cofactor involved in a range of metabolic pathways including the activation of long-chain fatty acids for catabolism. Cells synthesize CoA de novo from vitamin...
7.
Soriano-Sexto A, Gallego D, Leal F, Castejon-Fernandez N, Navarrete R, Alcaide P, et al.
Int J Mol Sci
. 2022 Nov;
23(21).
PMID: 36361642
Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed...
8.
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Ostergaard E, Tsiakas K, et al.
Hum Mol Genet
. 2022 Oct;
32(6):917-933.
PMID: 36190515
Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase,...
9.
Stanescu S, Bravo-Alonso I, Belanger-Quintana A, Perez B, Medina-Diaz M, Ruiz-Sala P, et al.
Orphanet J Rare Dis
. 2022 Jun;
17(1):243.
PMID: 35729663
Background: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six...
10.
Bravo-Alonso I, Navarrete R, Vega A, Ruiz-Sala P, Garcia Silva M, Martin-Hernandez E, et al.
J Clin Med
. 2019 Nov;
8(11).
PMID: 31683770
Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation...