Izabella A Pena
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Explore the profile of Izabella A Pena including associated specialties, affiliations and a list of published articles.
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10
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254
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Recent Articles
1.
Pena I, Shi J, Chang S, Yang J, Block S, Adelmann C, et al.
Nat Commun
. 2025 Jan;
16(1):978.
PMID: 39856062
Many essential proteins require pyridoxal 5'-phosphate, the active form of vitamin B6, as a cofactor for their activity. These include enzymes important for amino acid metabolism, one-carbon metabolism, polyamine synthesis,...
2.
van Karnebeek C, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, et al.
Genet Med
. 2024 Feb;
26(6):101104.
PMID: 38411040
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders...
3.
Jia J, Lahr R, Solgaard M, Moraes B, Pointet R, Yang A, et al.
Nucleic Acids Res
. 2021 Jan;
49(6):3461-3489.
PMID: 33398329
LARP1 is a key repressor of TOP mRNA translation. It binds the m7Gppp cap moiety and the adjacent 5'TOP motif of TOP mRNAs, thus impeding the assembly of the eIF4F...
4.
Kory N, de Bos J, van der Rijt S, Jankovic N, Gura M, Arp N, et al.
Sci Adv
. 2020 Oct;
6(43).
PMID: 33087354
The nicotinamide adenine dinucleotide (NAD/NADH) pair is a cofactor in redox reactions and is particularly critical in mitochondria as it connects substrate oxidation by the tricarboxylic acid (TCA) cycle to...
5.
Boycott K, Campeau P, Howley H, Pavlidis P, Rogic S, Oriel C, et al.
Am J Hum Genet
. 2020 Feb;
106(2):143-152.
PMID: 32032513
Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in...
6.
Gillespie M, McMillan H, Kernohan K, Pena I, Meyer-Schuman R, Antonellis A, et al.
J Neuromuscul Dis
. 2019 Jul;
6(3):333-339.
PMID: 31356216
Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more...
7.
Johnstone D, Al-Shekaili H, Tarailo-Graovac M, Wolf N, Ivy A, Demarest S, et al.
Brain
. 2019 Jan;
142(3):542-559.
PMID: 30668673
Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When...
8.
Riche R, Liao M, Pena I, Leung K, Lepage N, Greene N, et al.
JCI Insight
. 2018 Nov;
3(21).
PMID: 30385710
Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based...
9.
Pena I, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, et al.
Genetics
. 2017 Oct;
207(4):1501-1518.
PMID: 29061647
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or...
10.
Pena I, Marques L, Laranjeira A, Yunes J, Eberlin M, Arruda P
Springerplus
. 2016 Mar;
5:172.
PMID: 27026869
Detection and quantification of lysine degradation metabolites in plasma is necessary for the diagnosis and follow-up of diseases such as pyridoxine-dependent epilepsy. The principal metabolites involved in the disease are...