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

Genes & Diseases 2024年第4期11卷 120-123页

作者： Ramesh K.Narayanan Gonzalo Perez-siles Kamila A.Marzec Alexandra Boyling brent neumann Manoj P.Menezes Marina L.Kennerson Northcott Neuroscience Laboratory ANZAC Research Institute-Sydney Local Health DistrictSydneyNSW 2139Australia Sydney Medical School University of SydneySydneyNSw 2050Australia ANZAC Research Institute-Sydney Local Health District SydneyNSW 2139Australia Neuroscience Program Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental BiologyMonash UniversityMelbourneVictoria 3800Australia TY Nelson Department of Neurology and Neurosurgery and Kids Neuroscience Children's Hospital at WestmeadWestmeadSydneyNSW2145Australia Paediatrics and Child Health The University of SydneySydneySydneyNSW 2145Australia Molecular Medicine Laboratory Concord General Repatriation HospitalSydneyNSW 2139Australia

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 *** 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

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Bridging the gap:axonal fusion drives rapid functional recovery of the nervous system

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Neural Regeneration Research 2018年第4期13卷 591-594页

作者： Jean-Sébastien Teoh Michelle Yu-Ying Wong Tarika Vijayaraghavan brent neumann Neuroscience Program Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental BiologyMonash University

Injuries to the central or peripheral nervous system frequently cause long-term disabilities because damaged neurons are unable to efficiently *** inherent deficiency necessitates the need for new treatment options aimed at restoring lost function to *** to humans,a number of species possess far greater regenerative capabilities,and can therefore provide important insights into how our own nervous systems can be *** particular,several invertebrate species have been shown to rapidly initiate regeneration post-injury,allowing separated axon segments to *** process,known as axonal fusion,represents a highly efficient repair mechanism as a regrowing axon needs to only bridge the site of damage and fuse with its separated counterpart in order to re-establish its original *** recent findings in the nematode Caenorhabditis elegans have expanded the promise of axonal fusion by demonstrating that it can restore complete function to damaged ***,we revealed the importance of injury-induced changes in the composition of the axonal membrane for mediating axonal fusion,and discovered that the level of axonal fusion can be enhanced by promoting a neuron＇s intrinsic growth potential.A complete understanding of the molecular mechanisms controlling axonal fusion may permit similar approaches to be applied in a clinical setting.

关键词： axonal fusion axon regeneration nervous system repair nerve injury phosphatidylserine functional repair axonal transport Caenorhabditis elegans

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