The mucolipidosis Ill-causing mutation in GNPTAB,c.1760G>C,disrupts the development of somites in rats  

作　　者：Tianying Nong Jiangui Li Xia Li Yiqiang Li Zhaohui Li Weizhe Shi Qiuchan Zhou Hongwen Xu Mingwei Zhu Ya-Ping Tang 

机构地区：[1]Guangzhou Institute of Pediatrics,Guangzhou Women and Children's Medical Center,Guangzhou Medical University,Guangdong Provincial Clinical Research Center for Child Health,Guangzhou,Guangdong 510623,China [2]Department of Pediatric Orthopedics,Guangzhou Women and Children's Medical Center,Guangdong Provincial Clinical Research Center for Child Health,Guangzhou,Guangdong 510623,China

出　　处：《Genes & Diseases》2024年第6期73-75,共3页基因与疾病（英文）

基　　金：supported by the National Natural Science Foundation of China (No.81972038 to M.Z.);the Natural Science Foundation of Guangdong Province,China (No.2023A1515010281 to M.Z.);partially by Guangzhou Municipal Science and Technology Project,Guangdong,China (No.202201010838 to M.Z.).

摘　　要：Mucolipidosis(ML)II(OMIM 252500)and I=Iα/β(OMIM 252600)are a group of rare lysosomal storage disorders caused by mis-sorting of lysosomal hydrolases and the subsequent accumulation of nondegraded macromolecules.These disorders manifest as multiple-systemic abnormalities throughout the body,mainly including severe dysplasia,short stature,scoliosis,joint stiffness,joint contractures,claw-hand deformities,craniofacial deformities,retinal degeneration,mental retardation,cognitive impairment,and internal organ dysfunction.

关 键 词：law DIS SORTING 

分 类 号：R589[医药卫生—内分泌]