Results 1 to 10 of about 7,964 (171)

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Deficiency in the enzyme β‐mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood‐onset β‐mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard   +8 more
doaj   +4 more sources

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant [PDF]

BMC Medical Genetics, 2009
Background β-Mannosidosis (OMIM 248510) is a rare inborn lysosomal storage disorder caused by the deficient activity of β-mannosidase, an enzyme encoded by a single gene (MANBA) located on chromosome 4q22-25.
Renard Dimitri, Garcés Violeta, Nieto Michèle, Labauge Pierre, Stensland Hilde, Sabourdy Frédérique, Castelnovo Giovanni, de Champfleur Nicolas, Levade Thierry   +8 more
doaj   +5 more sources

Kidney disease genetic risk variants alter lysosomal beta-mannosidase (<i>MANBA</i>) expression and disease severity. [PDF]

Sci Transl Med, 2021
MANBA is a kidney disease risk gene that alters tubular endolysosomal function, inducing inflammasome activation and fibrosis.
Gu X, Yang H, Sheng X, Ko YA, Qiu C, Park J, Huang S, Huang S, Kember R, Judy RL, Park J, Damrauer SM, Nadkarni G, Loos RJF, My VTH, Chaudhary K, Bottinger EP, Paranjpe I, Saha A, Brown C, Akilesh S, Hung AM, Palmer M, Baras A, Overton JD, Reid J, Ritchie M, Rader DJ, Susztak K.   +28 more
europepmc   +4 more sources

Mouse Beta-Mannosidase: cDNA Cloning, Expression, and Chromosomal Localization

Bioscience Reports, 2001
β-mannosidase is an exoglycosidase involved in the degradation of N-linked oligosacharides moieties of glycoproteins. Lack of β-mannosidase activity leads to the lysosomal disorder β-mannosidosis (MIM 248510). We have isolated and sequenced the gene encoding the mouse β-mannosidase. Comparison of the deduced amino acid sequence of mouse, human, bovine,
A Orlacchio
exaly   +4 more sources

Impact of afucosylation strategy on antibody function: a comparative study of glycoengineered anti-CD20 antibodies Obinutuzumab and Obinutuzumab beta [PDF]

mAbs
Enhancing antibody-dependent cellular cytotoxicity (ADCC) via N-glycan afucosylation of Asn-297 is a validated strategy to improve the clinical efficacy of therapeutic antibodies.
Qing Shuang, Mingze Sun, Guangzhong Lin, Lunfeng Zhang, Shuo Huang, Qunfang Shen, Lingling Jiang, Lijing Yang, Jicui Sun, Hong Chen, Feng Li, Jiangmei Li   +11 more
doaj   +2 more sources

Enhanced spinosad production in Saccharopolyspora spinosa by employing mannose as an extracellular carbon reservoir and optimizing acetyl-CoA supply pathway [PDF]

Synthetic and Systems Biotechnology
Spinosad, a potent broad-spectrum insecticidal polyketide produced by Saccharopolyspora spinosa, faces limitations in industrial-scale production due to inherent inefficiencies in its native biosynthetic pathways.
Zirong Zhu, Qin Zhao, Yan Zhu, Ling Shuai, Jun Li, Qing Liu, Xirong Liu, Shanrui Wang, Duo Jin, Zirui Dai, Liqiu Xia, Hongrong Liu, Jie Rang   +12 more
doaj   +2 more sources

The glycoside hydrolase gene family profile and microbial function of Debaryomyces hansenii Y4 during South-road dark tea fermentation

Frontiers in Microbiology, 2023
Microbes are crucial to the quality formation of Sichuan South-road Dark Tea (SSDT) during pile-fermentation, but their mechanism of action has not yet been elucidated. Here, the glycoside hydrolase (GH) gene family and microbial function of Debaryomyces
Yao Zou, Yao Zou, Minqiang Liu, Minqiang Liu, Yuqing Lai, Yuqing Lai, Xuyi Liu, Xuyi Liu, Xian Li, Xian Li, Yimiao Li, Yimiao Li, Qian Tang, Qian Tang, Wei Xu, Wei Xu   +15 more
doaj   +1 more source

Proteome‐Wide Mendelian Randomization Analysis Identified Potential Drug Targets for Atrial Fibrillation

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Finding effective and safe therapeutic drugs for atrial fibrillation (AF) is an important concern for clinicians. Proteome‐wide Mendelian randomization analysis provides new ideas for finding potential drug targets. Methods and Results Using a
Xinpei Wang, Tao Huang, Jinzhu Jia
doaj   +1 more source

Genome-wide polygenic analysis of multiple sclerosis markers

Неврология, нейропсихиатрия, психосоматика, 2021
Objective: to perform a genome-wide polygenic analysis of multiple sclerosis (MS) markers in the ethnic groups of Bashkirs, Russians, and Tatars living in the Republic of Bashkortostan (Russian Federation).Patients and methods.
Ya. R. Timasheva, T. R. Nasibullin, I. A. Tuktarova, V. V. Erdman, T. R. Galiullin, O. V. Zaplakhova, K. Z. Bakhtiiarova   +6 more
doaj   +1 more source

Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis

EBioMedicine, 2022
Summary: Background: Childhood neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS), comprise a major cause of health-related disabilities in children ...
Jian Yang, Xiaoyan He, Li Qian, Binbin Zhao, Yajuan Fan, Fengjie Gao, Bin Yan, Feng Zhu, Xiancang Ma   +8 more
doaj   +1 more source