New hypothesis for the etiology of SPAST‐ based hereditary spastic paraplegia
Author:
Affiliation:
1. Department of Neurobiology and AnatomyDrexel University, College of Medicine Philadelphia Pennsylvania
Funder
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Cell Biology,Structural Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cm.21528
Reference51 articles.
1. A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
2. Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia
3. The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
4. Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination
5. Hereditary spastic paraplegia caused by mutations in the SPG4 gene
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1. Association between Hereditary Spastic Paraplegia and a Novel SPAST Exon 11 Mutation;J BIOL REG HOMEOS AG;2024
2. Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery;2023-08-09
3. Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias;Journal of Human Genetics;2023-06-12
4. Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report;World Journal of Clinical Cases;2023-05-16
5. Genetics of Motor Neuron Diseases;Encyclopedia of Life Sciences;2023-03-30
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