A Gain-of-Function Mutation on

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / genetics Amino Acids, Branched-Chain / genetics Gain of Function Mutation Humans Infant, Newborn Maple Syrup Urine Disease / diagnosis Mutation Protein Kinases / genetics
branched-chain amino acid metabolism branched-chain ketoacid dehydrogenase kinase genetic analysis leucinosis maple syrup urine disease molecular dynamics simulations newborn screening whole-exome sequencing

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
26 01 2022
Historique:
received: 21 12 2021
revised: 17 01 2022
accepted: 23 01 2022
entrez: 25 2 2022
pubmed: 26 2 2022
medline: 26 4 2022
Statut: epublish

Résumé

BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We identified, by whole exome-sequencing analysis, the p.His162Gln variant of the

Identifiants

DOI: 10.3390/genes13020233 PMID: 35205278 PMC: PMC8872256
pubmed: 35205278
pii: genes13020233
doi: 10.3390/genes13020233
pmc: PMC8872256
pii:
doi:

Substances chimiques

Amino Acids, Branched-Chain 0
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) EC 1.2.4.4
Protein Kinases EC 2.7.-
(3-methyl-2-oxobutanoate dehydrogenase (lipoamide)) kinase EC 2.7.11.4

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Références

J Comput Chem. 2005 Dec;26(16):1701-18
pubmed: 16211538
Biochem Biophys Res Commun. 2004 Jan 9;313(2):391-6
pubmed: 14684174
J Nutr. 2006 Jan;136(1 Suppl):243S-9S
pubmed: 16365091
Arch Neurol. 1961 Oct;5:351-63
pubmed: 13912814
J Biol Chem. 2012 Mar 16;287(12):9178-92
pubmed: 22291014
Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9728-33
pubmed: 23716694
Proc Natl Acad Sci U S A. 1978 Oct;75(10):4881-5
pubmed: 283398
Methods Enzymol. 2009;457:255-73
pubmed: 19426872
Mol Genet Metab. 2014 Sep-Oct;113(1-2):14-26
pubmed: 25085281
Clin Genet. 2013 Jun;83(6):545-52
pubmed: 22934535
Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6281-6
pubmed: 16606836
Pediatrics. 1954 Nov;14(5):462-7
pubmed: 13214961
Mol Genet Metab. 2014 Jul;112(3):210-7
pubmed: 24881969
Am J Physiol Endocrinol Metab. 2003 Oct;285(4):E854-63
pubmed: 12812918
Methods Enzymol. 2000;324:192-200
pubmed: 10989430
J Comput Chem. 2004 Oct;25(13):1605-12
pubmed: 15264254
Hum Mutat. 2014 Apr;35(4):470-7
pubmed: 24449431
J Biol Chem. 2004 Apr 23;279(17):17792-800
pubmed: 14742428
Mol Genet Metab. 2020 Mar;129(3):193-206
pubmed: 31980395
Curr Opin Clin Nutr Metab Care. 2001 Sep;4(5):419-23
pubmed: 11568504
Hum Mutat. 2013 Feb;34(2):355-62
pubmed: 23086801
Biochem J. 2006 Nov 15;400(1):153-62
pubmed: 16875466
J Biol Chem. 2012 Jul 6;287(28):23397-406
pubmed: 22589535
J Nutr. 2001 Mar;131(3):841S-845S
pubmed: 11238771
Annu Rev Nutr. 1984;4:409-54
pubmed: 6380539
BMC Res Notes. 2012 Jul 23;5:367
pubmed: 22824207
Ageing Res Rev. 2020 Dec;64:101198
pubmed: 33132154
Nat Rev Genet. 2010 Jan;11(1):60-74
pubmed: 20019687
PLoS One. 2016 Jul 29;11(7):e0160447
pubmed: 27472223
J Nutr. 2006 Jan;136(1 Suppl):207S-11S
pubmed: 16365084
Biochem Biophys Res Commun. 2007 Apr 27;356(1):38-44
pubmed: 17336929
Science. 2012 Oct 19;338(6105):394-7
pubmed: 22956686
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303
pubmed: 29788355

Auteurs

Alice Maguolo (A)

Department of Mother and Child, University of Verona, I-37126 Verona, Italy.
ORCID: 0000-0002-8921-2012

Giulia Rodella (G)

Department of Mother and Child, University of Verona, I-37126 Verona, Italy.
Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.

Alejandro Giorgetti (A)

Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.

Marion Nicolodi (M)

Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.

Rui Ribeiro (R)

Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, D-52425 Jülich, Germany.

Alice Dianin (A)

Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.

Gaetano Cantalupo (G)

Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
ORCID: 0000-0003-1343-8434

Irene Monge (I)

Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.

Sarah Carcereri (S)

Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.

Margherita Lucia De Bernardi (ML)

Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.
Department of Molecular Medicine and Biotecnology, AOU Federico II, I-80131 Napoli, Italy.

Massimo Delledonne (M)

Department of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.
ORCID: 0000-0002-7100-4581

Andrea Pasini (A)

Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Natascia Campostrini (N)

Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Florina Ion Popa (F)

Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Giorgio Piacentini (G)

Department of Mother and Child, University of Verona, I-37126 Verona, Italy.
Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Francesca Teofoli (F)

Department of Mother and Child, University of Verona, I-37126 Verona, Italy.
Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Monica Vincenzi (M)

Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Marta Camilot (M)

Department of Mother and Child, University of Verona, I-37126 Verona, Italy.
Department of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.

Andrea Bordugo (A)

Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Pediatric Clinic AOUI of Verona, I-37126 Verona, Italy.
ORCID: 0000-0003-1927-8187

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Oxidoreductases acting on aldehyde or oxo group donors › Cetone oxidoreductases › 3-Methyl-2-oxobutanoate dehydrogenase (lipoamide) › A Gain-of-Function Mutation on
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés à chaine ramifiée › A Gain-of-Function Mutation on
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › A Gain-of-Function Mutation on
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Gain-of-Function Mutation on
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › A Gain-of-Function Mutation on
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Leucinose › A Gain-of-Function Mutation on
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A Gain-of-Function Mutation on
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Phosphotransferases (Alcohol Group Acceptor) › Protein kinases › A Gain-of-Function Mutation on