Cargando…

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycemia and dicarboxylic aci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/ https://www.ncbi.nlm.nih.gov/pubmed/29597274 http://dx.doi.org/10.3390/ijms19041010

Ejemplares similares

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones
por: Arnedo, María, et al.
Publicado: (2019)

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol
por: Arnedo, María, et al.
Publicado: (2012)

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria
por: Puisac, Beatriz, et al.
Publicado: (2010)

Two-step ATP-driven opening of cohesin head
por: Marcos-Alcalde, Íñigo, et al.
Publicado: (2017)

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
por: Latorre‐Pellicer, Ana, et al.
Publicado: (2021)

Predictive Modeling of HMG-CoA Reductase Inhibitory Activity and Design of New HMG-CoA Reductase Inhibitors
por: Samizo, Shigeyoshi, et al.
Publicado: (2023)

Overexpression of HMG-CoA synthase promotes Arabidopsis root growth and adversely affects glucosinolate biosynthesis
por: Liao, Pan, et al.
Publicado: (2020)

Pleiotropic effects of the HMG-CoA reductase inhibitors
por: Mihos, Christos G, et al.
Publicado: (2011)

Short-term effect of the HMG-CoA reductase inhibitor rosuvastatin on erythrocyte nitric oxide synthase activity
por: Ludolph, Barbara, et al.
Publicado: (2007)

Aster glehni F. Schmidt Extract Modulates the Activities of HMG-CoA Reductase and Fatty Acid Synthase
por: Lee, Hyunbeom, et al.
Publicado: (2021)

Are Point Mutations in HMG-CoA Reductases (Hmg1 and Hmg2) a Step towards Azole Resistance in Aspergillus fumigatus?
por: Gonzalez-Jimenez, Irene, et al.
Publicado: (2021)

Embarazo ectópico sobre cicatriz uterina por cesárea
por: Navas-Campo, Raquel, et al.
Publicado: (2021)

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
por: Latorre-Pellicer, Ana, et al.
Publicado: (2020)

The role of HMG-CoA reductase inhibition in endothelial dysfunction and inflammation
por: Gelosa, Paolo, et al.
Publicado: (2007)

Positive pleiotropic effects of HMG-CoA reductase inhibitor on vitiligo
por: Noël, Martin, et al.
Publicado: (2004)

Structural and functional characterization of HMG-COA reductase from Artemisia annua
por: Kiran, Usha, et al.
Publicado: (2010)

Transcription of the three HMG-CoA reductase genes of Mucor circinelloides
por: Nagy, Gábor, et al.
Publicado: (2014)

Functional Implications of HMG-CoA Reductase Inhibition on Glucose Metabolism
por: Han, Ki Hoon
Publicado: (2018)

Chronic Onset Form of Anti-HMG-CoA Reductase Myopathy
por: Lorenzo-Villalba, Noel, et al.
Publicado: (2021)

Eupatilin Alleviates Hyperlipidemia in Mice by Inhibiting HMG-CoA Reductase
por: Kim, Kyung-Joo, et al.
Publicado: (2023)

Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
por: Morejon-Garcia, Patricia, et al.
Publicado: (2021)

The 3-hydroxy-3-methylglutaryl coenzyme-A (HMG-CoA) reductases
por: Friesen, Jon A, et al.
Publicado: (2004)

Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase
por: Würtz, Peter, et al.
Publicado: (2016)

The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase
por: Schumacher, Marc M, et al.
Publicado: (2015)

Transgenic Tobacco Overexpressing Brassica juncea HMG-CoA Synthase 1 Shows Increased Plant Growth, Pod Size and Seed Yield
por: Liao, Pan, et al.
Publicado: (2014)

High-throughput mapping of CoA metabolites by SAMDI-MS to optimize the cell-free biosynthesis of HMG-CoA
por: O’Kane, Patrick T., et al.
Publicado: (2019)

Correction: Transgenic tobacco overexpressing Brassica juncea HMG-CoA synthase 1 shows increased plant growth, pod size and seed yield
Publicado: (2014)

Modulation of Dendritic Cell Immunobiology via Inhibition of 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Reductase
por: Leuenberger, Tina, et al.
Publicado: (2014)

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
por: García-Hernández, Juan L., et al.
Publicado: (2021)

Degradation of HMG-CoA reductase-induced membranes in the fission yeast, Schizosaccharomyces pombe
Publicado: (1995)

Role of HMG-CoA reductase inhibitors with curative radiotherapy in men with prostate cancer
por: Solanki, Abhishek A, et al.
Publicado: (2011)

Lepidopteran HMG-CoA reductase is a potential selective target for pest control
por: Li, Yuan-mei, et al.
Publicado: (2017)

HMG-CoA reductase promotes protein prenylation and therefore is indispensible for T-cell survival
por: Lacher, Sonja M, et al.
Publicado: (2017)

An Atomic-Level Perspective of HMG-CoA-Reductase: The Target Enzyme to Treat Hypercholesterolemia
por: Gesto, Diana S., et al.
Publicado: (2020)

Lipoprotein signatures of cholesteryl ester transfer protein and HMG-CoA reductase inhibition
por: Kettunen, Johannes, et al.
Publicado: (2019)

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
por: Alfadhel, Majid, et al.
Publicado: (2022)

Targeting Enterococcus faecalis HMG-CoA reductase with a non-statin inhibitor
por: Bose, Sucharita, et al.
Publicado: (2023)

HMG-COA reductase inhibitor modulates collagen GEL-contraction by hepatic myofibroblast-like stellate cell line: involvement of geranylgeranylated proteins
por: Yanase, Mikio, et al.
Publicado: (2004)

HMG CoA reductase inhibitors (statins) to treat Epstein–Barr virus-driven lymphoma
por: Cohen, J I
Publicado: (2005)

Regulated degradation of HMG-CoA reductase, an integral membrane protein of the endoplasmic reticulum, in yeast
Publicado: (1994)

Cannot write session to /tmp/vufind_sessions/sess_b4ssddsfjl2e4v9pht6hfcemq1