Results 71 to 80 of about 12,610 (204)

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Claire‐Marine Bérat, Murielle Assoun, Claire Belloche, Sabine Dewulf, Sandrine Dubois, Bénédicte Samba, Aude Servais, Myriam Dao, Edouard Le Guillou, Amélie de Colnet, Chris Ottolenghi, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +19 more
wiley   +1 more source

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia [PDF]

Pediatrics, 2012
OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition.
Colin J, O'Shea, Jennifer L, Sloan, Edythe A, Wiggs, Maryland, Pao, Andrea, Gropman, Eva H, Baker, Irini, Manoli, Charles P, Venditti, Joseph, Snow   +8 more
openaire   +2 more sources

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Nature Communications, 2022
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché   +16 more
doaj   +1 more source

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

Science Translational Medicine, 2022
Organic acidemias such as methylmalonic acidemia (MMA) are a group of inborn errors of metabolism that typically arise from defects in the catabolism of amino and fatty acids.
PamelaSara E. Head, S. Myung, Yong Chen, Jessica L. Schneller, Cindy X Wang, N. Duncan, Pauline R. Hoffman, David Chang, Abigael Gebremariam, M. Gucek, I. Manoli, C. Venditti   +11 more
semanticscholar   +1 more source

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia

Çocuk Dergisi
Objective: We aimed to evaluate the frequency of pathological changes in blood parameters and their relationship with serum creatinine and glomerular filtration rate (GFR) in patients with methylmalonic acidemia.
Mehmet Cihan Balcı, Meryem Karaca, Gülden Gökçay   +2 more
doaj   +1 more source

Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction

Case Reports in Gastrointestinal Medicine, Volume 2026, Issue 1, 2026.
Objectives Despite cystic fibrosis transmembrane conductance regulator (CFTR) proteins being present throughout the entire body and organ systems, typical presentation of cystic fibrosis (CF) involves lung disease. We report a series of individuals that were referred to our CF clinic for evaluation following a diagnosis of chronic pancreatitis or acute
Brittany A. Wright, Ellie Hodapp, Douglas B. Hornick, Tahuanty A. Peña, Poulami Jha   +4 more
wiley   +1 more source