Cargando…

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria

Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses to energy shortage, we investigated a hemizygous mouse model of methylmalonyl-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lucienne, Marie, Gerlini, Raffaele, Rathkolb, Birgit, Calzada-Wack, Julia, Forny, Patrick, Wueest, Stephan, Kaech, Andres, Traversi, Florian, Forny, Merima, Bürer, Céline, Aguilar-Pimentel, Antonio, Irmler, Martin, Beckers, Johannes, Sauer, Sven, Kölker, Stefan, Dewulf, Joseph P, Bommer, Guido T, Hoces, Daniel, Gailus-Durner, Valerie, Fuchs, Helmut, Rozman, Jan, Froese, D Sean, Baumgartner, Matthias R, de Angelis, Martin Hrabě
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10460489/ https://www.ncbi.nlm.nih.gov/pubmed/37369025 http://dx.doi.org/10.1093/hmg/ddad100

Ejemplares similares

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
por: Forny, Patrick, et al.
Publicado: (2021)

An Expanding Spectrum of Complications in Isolated Methylmalonic Aciduria
por: Forny, Patrick, et al.
Publicado: (2020)

Mouse Models for Methylmalonic Aciduria
por: Peters, Heidi L., et al.
Publicado: (2012)

Renal Involvement in Methylmalonic Aciduria
por: Alkhunaizi, Ahmed M., et al.
Publicado: (2017)

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria
por: Lucienne, Marie, et al.
Publicado: (2020)

Monitoring Methylmalonic Aciduria by NMR Urinomics
por: Nicolescu, Alina, et al.
Publicado: (2020)

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
por: Schumann, Anke, et al.
Publicado: (2023)

Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
por: Murgai, Aditya, et al.
Publicado: (2015)

Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation
por: Rosa, Joana, et al.
Publicado: (2018)

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy
por: Podell, Michael, et al.
Publicado: (1996)

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
por: Schnabel, Elena, et al.
Publicado: (2023)

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
por: Tucci, Sara
Publicado: (2020)

Monitoring longitudinal disease progression in a novel murine Kit tumor model using high-field MRI
por: Kraiger, Markus, et al.
Publicado: (2022)

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
por: Marcadier, Julien L, et al.
Publicado: (2013)

Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction
por: Milenkovic, Dusanka, et al.
Publicado: (2022)

The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria
por: Cheng, Ailan, et al.
Publicado: (2019)

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
por: Kowalik, Agnieszka, et al.
Publicado: (2021)

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
por: Sloan, Jennifer L., et al.
Publicado: (2011)

The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria()
por: de Benedictis, Fernando M., et al.
Publicado: (2014)

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
por: Wen, Ling-yi, et al.
Publicado: (2020)

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
por: Wesół-Kucharska, Dorota, et al.
Publicado: (2020)

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
por: Gabriel, Marie Cosette, et al.
Publicado: (2021)

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
por: Forny, Patrick, et al.
Publicado: (2023)

Extensive phenotypic characterization of a new transgenic mouse reveals pleiotropic perturbations in physiology due to mesenchymal hGH minigene expression
por: Kaklamanos, Aimilios, et al.
Publicado: (2017)

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
por: Burlina, Alberto, et al.
Publicado: (2016)

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria
por: Grandone, Elvira, et al.
Publicado: (2019)

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection
por: Rafat, Cédric, et al.
Publicado: (2023)

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
por: Chapman, Kimberly A., et al.
Publicado: (2018)

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
por: Brennerová, Katarína, et al.
Publicado: (2021)

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
por: Liu, Yupeng, et al.
Publicado: (2022)

SMAD4 Controls Cancer Cell Metabolism by Regulating Methylmalonic Aciduria Cobalamin Deficiency (cbl) B Type
por: Song, Kyoung, et al.
Publicado: (2022)

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency
por: Forny, Patrick, et al.
Publicado: (2014)

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
por: Forny, Patrick, et al.
Publicado: (2021)

Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z
por: Yabuta, Yukinori, et al.
Publicado: (2013)

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
por: Rossi, Claudia, et al.
Publicado: (2020)

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients
por: Wang, Ping, et al.
Publicado: (2021)

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
por: Cui, Xiaoyu, et al.
Publicado: (2022)

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
por: Hu, Shuang, et al.
Publicado: (2018)

Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type
por: Wu, Li-Yong, et al.
Publicado: (2017)

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features
por: Diogo, Rui, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_e5mg99mdbl3klf9vu7i7o5pmqn