Results 81 to 90 of about 1,993 (190)

Oxidation and repair of oxidative damage in the GSH-dependent enzyme CblC [PDF]

, 2019
The cblC disease is the most common inborn error of cobalamin metabolism. This is a monogenic disorder that affects all organs with patients presenting symptoms including cardiovascular, neurological, musculoskeletal, hematological and ocular problems ...
Tanimowo, Houston Segun
core  

Additional file 1 of Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

, 2022
Additional file 1: Table S1: Patients’ characteristics. Table S2: Detail of patient current treatment. Table S3: Clinical data at inclusion. Figure S1: Carry-over effect.
Dimitri Schlemmer (337672), François Feillet (3455519), Apolline Imbard (14122645), Jean-François Benoist (337673), Sophie Magréault (14122651), Florentia Kaguelidou (373190), Sophie Guilmin-Crépon (8263101), Jérémie Haignere (14122660), Manuel Schiff (337671), Artemis Toumazi (14122648), Hélène Ogier de Baulny (14122663), Alice Kuster (3487427), Nuria Garcia-Segarra (14122654), Corinne Alberti (132357), Isabelle Perronneau (14122657)   +14 more
core   +1 more source

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review

BMC Nephrology
Background Mutation of MMACHC gene causes cobalamin C disease (cblC), an inherited metabolic disorder, which presents as combined methylmalonic aciduria (MMA-uria) and hyperhomocysteinaemia in clinical. Renal complications may also be present in patients
Daorina Bao, Hongyu Yang, Yanqi Yin, Suxia Wang, Yang Li, Xin Zhang, Tao Su, Rong Xu, Chunyue Li, Fude Zhou   +9 more
doaj   +1 more source

Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?

Journal of Inborn Errors of Metabolism and Screening, 2019
Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications.
Giovana Regina Weber Hoss, Soraia Poloni, Henk J Blom, Ida Vanessa Doederlein Schwartz   +3 more
doaj   +1 more source

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Orphanet Journal of Rare Diseases, 2022
Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria
Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada   +10 more
doaj   +1 more source

Lower Plasma Antioxidant Defense and Heat Shock Proteins Mark Intra‐Amniotic Sludge Ultrasound Finding

Journal of Ultrasound in Medicine, Volume 45, Issue 5, Page 1083-1094, May 2026.
Objectives Intra‐amniotic sludge is an independent risk factor for preterm birth. It consists of a biophysical sonographic finding in the amniotic fluid, formed by dense echogenic particles near the cervical internal orifice, due to sterile or infectious inflammatory processes.
Clarissa Chavez Ortiz Roberto, Lílian Corrêa Costa‐Beber, Lucas Machado Sulzbacher, Jaíne Borges dos Santos, Anna Karolina Kretschmann Florencio de Souza Bagetti, Eduardo Becker Jr, Matias Nunes Frizzo, Thiago Gomes Heck, Mirna Stela Ludwig   +8 more
wiley   +1 more source

Antivitamin B12 Inhibition of the Human B12‐Processing Enzyme CblC: Crystal Structure of an Inactive Ternary Complex with Glutathione as the Cosubstrate [PDF]

, 2017
B12 antivitamins are important and robust tools for investigating the biological roles of vitamin B12. Here, the potential antivitamin B12 2,4‐difluorophenylethynylcobalamin (F2PhEtyCbl) was prepared, and its 3D structure was studied in solution and in ...
Gherasim, Carmen, Banerjee, Ruma, Christoph Kieninger, Markus Ruetz, Bernhard Kräutler, Koutmos, Markos, Kräutler, Bernhard, Aranganathan Shanmuganathan, Agnes Karasik, Salchner, Robert, Klaus Wurst, Carmen Gherasim, Markos Koutmos, Karasik, Agnes, Ruetz, Markus, Kieninger, Christoph, Shanmuganathan, Aranganathan, Wurst, Klaus, Ruma Banerjee, Robert Salchner   +19 more
core   +1 more source

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

Molecular Genetics and Metabolism, 2010
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type affinity, leaving undetermined the disease mechanism ...
Froese, D, Healy, S, McDonald, M, Kochan, G, Oppermann, U, Niesen, F, Gravel, R   +6 more
openaire   +2 more sources

Analysis of the Matrix Metalloproteinases Family Profile in Gastric Cancer Suggests Key Matrix Metalloproteinases for Tumor Development and Their Clinical Impact

Molecular Carcinogenesis, Volume 65, Issue 5, Page 577-588, May 2026.
ABSTRACT Gastric cancer (GC) is the fifth most common type worldwide, representing a public health problem. Among the genes related to this tumorigenesis, the family of matrix metalloproteinases (MMPs), essential regulators of the extracellular matrix (ECM), stand out for their involvement in the development and progression of GC.
Aline Costa Bastos, André Salim Khayat, Emanuele Raimunda Louzada Moraes, Ágatha Tereza Miranda Tavares, Ronald Matheus da Silva Mourão, Fabiano Cordeiro Moreira, Samir Mansour Moraes Casseb, Samia Demachki, Geraldo Ishak, Williams Fernandes Barra, Rommel Mario Rodríguez Burbano, Paulo Pimentel de Assumpção   +11 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source