Cargando…

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5’-deoxyadenosylcobalamin (AdoCbl), the cofactor of methylmalonyl-CoA mutase (MMUT). We i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Forny, Patrick, Plessl, Tanja, Frei, Caroline, Bürer, Celine, Froese, D. Sean, Baumgartner, Matthias R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2021
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9262797/ https://www.ncbi.nlm.nih.gov/pubmed/34796408 http://dx.doi.org/10.1007/s00439-021-02398-6

Ejemplares similares

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

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
por: Lucienne, Marie, et al.
Publicado: (2023)

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia
por: Agnarsdóttir, Dagbjört, et al.
Publicado: (2022)

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)

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

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)

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)

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report
por: Profitlich, Laurie, et al.
Publicado: (2009)

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)

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

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy
por: Collison, Frederick T., et al.
Publicado: (2015)

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

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)

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
por: De Simone, Luciano, et al.
Publicado: (2018)

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)

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
por: Girisha, Katta Mohan, et al.
Publicado: (2012)

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)

MMAB promotes negative feedback control of cholesterol homeostasis
por: Goedeke, Leigh, et al.
Publicado: (2021)

Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment
por: Sun, Shuqi, et al.
Publicado: (2022)

Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
por: Majumdar, Ramanath, 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)

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

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

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

Co‐recruitment analysis of the CBL and CBLB signalosomes in primary T cells identifies CD5 as a key regulator of TCR‐induced ubiquitylation
por: Voisinne, Guillaume, et al.
Publicado: (2016)

Association between the MVK and MMAB polymorphisms and serum lipid levels
por: Miao, Liu, et al.
Publicado: (2017)

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia
por: Marelli, Cecilia, et al.
Publicado: (2022)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_jvhe6s4i74tqf01b3kbjl2crdj