C.elegans model of riboflavin transporter deficiency(RTD)disorder reveals deficits in synaptic transmission and movement  

作　　者：Ramesh K.Narayanan Gonzalo Perez-siles Kamila A.Marzec Alexandra Boyling Brent Neumann Manoj P.Menezes Marina L.Kennerson 

机构地区：[1]Northcott Neuroscience Laboratory,ANZAC Research Institute-Sydney Local Health District,Sydney,NSW 2139,Australia [2]Sydney Medical School,University of Sydney,Sydney,NSw 2050,Australia [3]ANZAC Research Institute-Sydney Local Health District,Sydney,NSW 2139,Australia [4]Neuroscience Program,Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology,Monash University,Melbourne,Victoria 3800,Australia [5]TY Nelson Department of Neurology and Neurosurgery and Kids Neuroscience,Children's Hospital at Westmead,Westmead,Sydney,NSW2145,Australia [6]Paediatrics and Child Health,The University of Sydney,Sydney,Sydney,NSW 2145,Australia [7]Molecular Medicine Laboratory,Concord General Repatriation Hospital,Sydney,NSW 2139,Australia

出　　处：《Genes & Diseases》2024年第4期120-123,共4页基因与疾病（英文）

基　　金：support was provided by the Cure RTD Foundation and Australian Medical Research Future Fund(MRFF)Genomics Health Futures Mission Grant(No.2007681);funded by the NIH Office of the Research Infrastructure programs(P400D010440).

摘　　要：Riboflavin transporter deficiency(RTD),previously known as Brown-Vialetto-Van Laere syndrome,is a childhoodonset neurodegenerative disorder characterized by sensory and motor neuron degeneration causing ataxia,muscle weakness,optic atrophy,and respiratory failure.Mutations in SLC52A2 and SLC52A3,solute carrier family members that encode riboflavin(RF)transporters RFVT2 and RFVT3,are known to cause RTD types 2 and 3,respectively.

关 键 词：RTD DEGENERATION TD 

分 类 号：R532.21[医药卫生—内科学]