Results 11 to 20 of about 2,693,578 (146)

In vivo genome editing at the albumin locus to treat methylmalonic acidemia [PDF]

Molecular Therapy: Methods & Clinical Development, 2021
Methylmalonic acidemia (MMA) is a metabolic disorder most commonly caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene. Although adeno-associated viral (AAV) gene therapy has been effective at correcting the disease phenotype in MMA mouse ...
Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea E. Hurley, William R. Lagor, Gang Bao, Charles P. Venditti   +10 more
doaj   +2 more sources

Homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in MMUT gene affecting newborn lamb viability

, 2023
Abstract Recessive deleterious variants are known to segregate in livestock populations as in human, and some may cause lethality when homozygous. By scanning the genome of 6,845 Manech Tête Rousse dairy sheep using phased 50k SNP genotypes and pedigree data, we searched for deficiency in homozygous haplotype (DHH ...
Maxime Ben Braiek, Carole Moreno-Romieux, Céline André, Jean-Michel Astruc, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Francis Fidelle, Itsasne Granado–Tajada, Chris Hozé, Florence Plisson-Petit, François Rivemale, Julien Sarry, Némuel Tadi, Florent Woloszyn, Stéphane Fabre   +15 more
openaire   +3 more sources

Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS [PDF]

Journal of Genetic Engineering and Biotechnology
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, severe condition in children, resulting from uncontrolled complement activation caused by genetic factors or autoantibodies; it usually has a poor prognosis.
Fatina I. Fadel, Khalda Amr, Rasha EssamEldin Galal, Ghada El-kamah, Mohamed A Abdel Mawla, Amr Mohamed Salem, Mohamed S. Thabet, Shorouk A.Othman   +7 more
doaj   +2 more sources

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report [PDF]

BMC Neurology
Background Liver-kidney transplantation in methylmalonic acidemia (MMA) improves metabolic control but does not eliminate neurological risk. Peripheral neuropathy is increasingly recognized in transplanted patients, yet its pathophysiology and ...
Mariapia Griffo, Francesca Magri, Francesca Furlan, Elisabetta Bernardi, Francesca Menni, Francesco Tagliaferri, Sara Testa, Dario Ronchi, Sara Petrillo, Fiorella Piemonte, Delia Gagliardi, Mosè Parisi, Samuel Padelli, Daniele Velardo, Nicola Molitierno, Stefania Corti, Giacomo Pietro Comi   +16 more
doaj   +2 more sources

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene [PDF]

Genetics in Medicine Open
Purpose: Although congenital anomalies are among the strongest risk factors for developing pediatric cancer, the genetic underpinnings remain unclear.
Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw, Michael E. Scheurer, Donna M. Muzny, Danielle Mitchell, Olga Taylor, Shalini N. Jhangiani, Shannon Dugan-Perez, Yifan Wu, Harsha Doddapaneni, Sravya Venkata Bhamidipati, Marie-Claude Gingras, Jennifer E. Posey, Richard A. Gibbs, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Aniko Sabo   +21 more
doaj   +2 more sources

Novel AAV-mediated genome editing therapy improves health and survival in a mouse model of methylmalonic acidemia

PLoS ONE, 2022
Methylmalonic acidemia (MMA) is an inborn error of metabolism mostly caused by mutations in the mitochondrial methylmalonyl-CoA mutase gene (MMUT). MMA patients suffer from frequent episodes of metabolic decompensation, which can be life threatening.
Shengwen Zhang, Amy Bastille, Susana Gordo, Nikhil Ramesh, Jenisha Vora, Elizabeth McCarthy, Xiaohan Zhang, Dylan Frank, Chih-Wei Ko, Carmen Wu, Noel Walsh, Shreya Amarwani, Jing Liao, Qiang Xiong, Lauren Drouin, Matthias Hebben, Kyle Chiang, B. Nelson Chau   +17 more
doaj   +2 more sources

Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel <i>MMUT</i> Variants. [PDF]

Diagnostics (Basel)
Background/Objectives: Isolated methylmalonic acidemia (iMMA) is a rare autosomal recessive metabolic disorder caused by defects in methylmalonyl-CoA mutase (MCM) activity or in the biosynthesis of its cofactor, adenosylcobalamin. Mutations in five genes—
Masri M, Khalid N, Salleh N, Lua SH, Abdul Azize NA, Yakob Y, Ali EZ, Munusamy VA, Ngu LH, Lee JS, Toh TH, Habib A.   +11 more
europepmc   +2 more sources

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort. [PDF]

J Inherit Metab Dis
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Vissac A, Sarda E, Roux CJ, Schiff M, Bérat CM, Bouchereau J, Arnoux JB, de Puyraimond C, Gaschignard M, Mekdade T, Cucinotta U, Mayer C, Barbier V, Benoist JF, Oualha M, Capito C, Chardot C, Dao M, Servais A, Francoz C, Dehoux L, Lacaille F, Desguerre I, Boddaert N, de Lonlay P, Brassier A.   +25 more
europepmc   +2 more sources

Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia

Molecular Therapy: Methods & Clinical Development, 2021
Methylmalonic acidemia (MMA) is a severe metabolic disorder most commonly caused by a mutation in the methylmalonyl-CoA mutase (MMUT) gene. Patients with MMA experience multisystemic disease manifestations and remain at risk for neurological disease ...
Francis J. May, PamelaSara E. Head, Leah E. Venturoni, Randy J. Chandler, Charles P. Venditti   +4 more
doaj   +1 more source

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency [PDF]

, 2020
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial ...
Tokonami, Natsuko, Diomedi Camassei, Francesca, Berquez, Marine, Chen, Zhiyong; https://orcid.org/, Moraes, Carlos T, Cremonesi, Alessio; https://orcid.org/, Baumgartner, Matthias R; https://orcid.org/, Festa, Beatrice Paola, Failli, Mario, Forny, Patrick; https://orcid.org/, Schumann, Anke, Carrella, Diego, Di Bernardo, Diego; https://orcid.org/, Debaix, Huguette, Raimondi, Andrea; https://orcid.org/, Devuyst, Olivier; https://orcid.org/, Kölker, Stefan, Luciani, Alessandro, Nieri, Daniela, Diaz, Francisca, Berquez M, Devuyst O, Matthias R. Baumgartner, Festa B. P., Olivier Devuyst, Cremonesi A., Failli M, Diaz F., Tokonami N, Raimondi, Andrea, Stefan Kölker, Moraes C. T., Nieri D, Nieri D., Chen Z, Chen, Zhiyong, Berquez M., Carrella D., Di Bernardo, Diego, Marine Berquez, Diego Carrella, Cremonesi, Alessio, Francisca Diaz, Alessandro Luciani, Beatrice Paola Festa, Di Bernardo D., Devuyst O., Schumann A., Baumgartner MR, Zhiyong Chen, Huguette Debaix, Anke Schumann, Mario Failli, Raimondi A., Schumann A, Cremonesi A, Luciani A., Diaz F, Forny P, Natsuko Tokonami, Forny, Patrick, Kolker S., Moraes, Carlos T., Di Bernardo D, Raimondi A, Andrea Raimondi, Diego Di Bernardo, Alessio Cremonesi, Baumgartner, Matthias R, Diomedi Camassei F, Carrella D, Diomedi Camassei F., Carlos T. Moraes, Daniela Nieri, Patrick Forny, Devuyst, Olivier, Festa BP, Moraes CT, Debaix H, Failli M., Baumgartner, Matthias R., Tokonami N., Luciani A, Kölker S, Francesca Diomedi Camassei, Debaix H., Baumgartner M. R., Chen Z., Forny P.   +88 more
core   +3 more sources