Results 51 to 60 of about 1,993 (190)

CBLC ubiquitin ligase activity is required for Golgi but not SRC levels regulation.

, 2015
(A) Requirement of CBLC RING domain. HeLa wild type (WT) or stably expressing siRNA-resistant-CBLC (CBLC-GFP) or siRNA-resistant-CBLC RING mutant (C351A-GFP) cells were transfected with deconvoluted CBLC-7 siRNA. Golgi stained with Giantin.
Adrian Boey (573783), Frederic Bard (798730), Germaine Goh (798727), Joanne Chia (798728), Natalia V. Gunko (798729), Wan Yin Lee (798726)   +5 more
core   +1 more source

DataSheet2_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect [PDF]

, 2015
Cobalamin C is a rare inborn disorder of metabolism that results in multisystemic abnormalities, including progressive visual deficits. Although the cellular pathophysiology of cblC is a field of active study, little attention has been dedicated to documenting the cognitive consequences of the defect.
Jenny, Bellerose, Mathilde, Neugnot-Cerioli, Karine, Bédard, Catherine, Brunel-Guitton, Grant A, Mitchell, Luis H, Ospina, Miriam H, Beauchamp   +6 more
openaire   +2 more sources

Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia

Frontiers in Pediatrics, 2022
BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs.
Tu Juan, Chen Chao-ying, Li Hua-rong, Wan Ling   +3 more
doaj   +1 more source

CBLC and SRC antagonistic effect on the Golgi apparatus.

, 2015
Giantin staining in HeLa cells. Fragmentation Index measured in quadruplicates on at least 400 cells per condition. Error bars show SD statistical significance (p) measured by unpaired Student’s t-test.
Adrian Boey (573783), Frederic Bard (798730), Germaine Goh (798727), Joanne Chia (798728), Natalia V. Gunko (798729), Wan Yin Lee (798726)   +5 more
core   +1 more source

DataSheet1_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

DataSheet3_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Frontiers in Genetics, 2022
Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China.
Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han   +19 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Molecular Genetics & Genomic Medicine, 2020
Background Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia.
Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu   +11 more
doaj   +1 more source