Results 31 to 40 of about 452,408 (160)

CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN

, 2022
The E3 ubiquitin ligase is an important regulator of cell signaling and proteostasis and is tightly controlled in many diseases, including cancer. Our study aimed to investigate the biological role of the E3 ubiquitin ligase CBLC in breast cancer and ...
Jianfeng Hang (2985864), Bin Xiao (146435), Jingrun Lu (8100791), Zhenzhan Kuang (4377529), Chun Deng (1404892), Quan Zhou (492529), Linhai Li (4395022), Ting Lei (304331), Fei Mo (624539), Xiaoyu Song (301182), Hanlin Yang (5657690), Weiwei Li (364036), Zhaoxun Luo (740803), Yongyin He (11522413), Wenwu Zhang (311832)   +14 more
core   +1 more source

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +2 more sources

Structural Study of the Complex of cblC Methylmalonic Aciduria and Homocystinuria-Related Protein MMACHC with Cyanocobalamin

Crystals, 2022
MMACHC is an essential protein for the body to metabolise vitamin B12, and its deficiency will cause cblC-type methylmalonic aciduria and homocystinuria. MMACHC can interact with cyanocobalamin (a type of vitamin B12) cofactor and plays an important role
Qin Xu, Huan Zhou, Minjun Li, Weiwei Wang, Mengxue Xu, Zhimin Zhu, Chenyu Zhang, Qisheng Wang, Feng Yu, Jianhua He   +9 more
doaj   +1 more source

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

International Journal of Neonatal Screening, 2022
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu   +49 more
doaj   +1 more source

Diverse Clinical manifestations of Cobalamin C Metabolism Disorders. [PDF]

Iran J Child Neurol
Cobalamin, commonly known as vitamin B12, is a crucial micronutrient synthesized predominantly by a few microorganisms. In the human body, Vitamin B12 (Cobalamin) is essential for DNA synthesis and is required as a cofactor for functioning two crucial ...
Eslamiyeh H.
europepmc   +2 more sources

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. Figure S2: plasma total homocysteine (tHcy) before and after one month treatment with 100 mg/kg/day) (A, D) or 250 mg/kg/day (B, E) in pnrCBS patients (A, B) and cblC patients (B, E ...
Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel   +14 more
openaire   +1 more source

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients [PDF]

, 2018
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”.
Benoist, Jean-François, Matthias R. Baumgartner, Pastinen, Tomi, Baumgartner, Matthias,, Chrystèle Bonnemains, Abderrahim Oussalah, Hariri, Fadi, François Feillet, Marchand, Virginie, Motorin, Yuri, Jean-Louis Guéant, Alison Brebner, Guéant, Jean-Louis, Raby, Benjamin, Mihaela Pupavac, Benjamin A Raby, Bonnemains, Chrystèle, Jean-François Benoist, Froese, D Sean, Justine Flayac, Feillet, François, Virginie Marchand, Filhine-Tresarrieu, Pierre, Watkins, David, Can Ficicioglu, Rosenblatt, David, Ficicioglu, Can, Koscinski, Isabelle, Coelho, David, Isabelle Koscinski, Tomi Pastinen, Pupavac, Mihaela, David Watkins, Robert, Aurélie, David S. Rosenblatt, Flayac, Justine, Montpetit, Alexandre, Rosenblatt, David S., Wendy K. Chung, Tregouet, David,, David Tregouët, Chéry, Céline, Oussalah, Abderrahim, Thomas Josse, Morange, Pierre-Emmanuel, Tregouet, David, A., Aurélie Robert, D. Sean Froese, Chung, Wendy K., Nadaf, Javad, Froese, D. Sean, Javad Nadaf, Majewski, Jacek, Gastin, Isabelle, Baumgartner, Matthias, R., Céline Chéry, Fadi Hariri, Raby, Benjamin A., David Coelho, Baumgartner, Matthias R., Pierre Filhine-Tresarrieu, Alexandre Montpetit, Tregouët, David, Pierre-Emmanuel Morange, Isabelle Gastin, Josse, Thomas, Jacek Majewski, Yuri Motorin, Brebner, Alison, Baumgartner, Matthias R; https://orcid.org/, Oussalah, Abderrahim; https://orcid.org/, et al   +71 more
core   +5 more sources

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Orphanet Journal of Rare Diseases, 2020
Background Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism.
Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang   +26 more
doaj   +1 more source

Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment [PDF]

, 2022
BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Wenqi Song, Yu Rong, Hong Jin, Qiliang Li, Shuqi Sun   +4 more
core   +1 more source

The Ubiquitin Ligase CBLC Maintains the Network Organization of the Golgi Apparatus. [PDF]

, 2015
The Golgi apparatus plays a pivotal role in the sorting and post-translational modifications of secreted and membrane proteins. In mammalian cells, the Golgi is organized in stacks of cisternae linked together to form a network with a ribbon shape ...
Chia Joanne, Wan Yin Lee, Gunko, Natalia, Bard, Frederic, Bard F., Goh, Germaine Goh, Lee, Wan Yin Lee, Lee Wan Yin, Goh Germaine, Natalia V. Gunko (798729), Natalia V Gunko, Bard Frederic, Adrian Boey, Boey, Adrian Boey, Frederic Bard (798730), Lee W.Y., Joanne Chia, Wan Yin Lee (798726), Boey Adrian, Germaine Goh (798727), Chia, Joanne Chia, Gunko N.V., Joanne Chia (798728), Boey A., Chia J., Gunko Natalia V., Adrian Boey (573783), Germaine Goh, Goh G., Frederic Bard   +29 more
core   +1 more source