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SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
14/14 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
The 14 checked references that resolve
resolves10.1086/321267
The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype
resolves10.1034/j.1600-0854.2000.011109.x
Overexpression of a Novel Sorting Nexin, SNX15, Affects Endosome Morphology and Protein Trafficking
resolves10.1093/emboj/16.8.1820
Endosomal transport function in yeast requires a novel AAA‐type ATPase, Vps4p
resolves10.1006/jmbi.2001.4917
Mammalian Cells Express Two VPS4 Proteins Both of Which are Involved in Intracellular Protein Trafficking
resolves10.1091/mbc.11.2.747
The Mouse SKD1, a Homologue of Yeast Vps4p, Is Required for Normal Endosomal Trafficking and Morphology in Mammalian Cells
resolves10.1083/jcb.105.3.1253
Translocation and clustering of endosomes and lysosomes depends on microtubules.
resolves10.1083/jcb.140.6.1277
Cruising along Microtubule Highways: How Membranes Move through the Secretory Pathway
resolves10.1093/hmg/11.2.153
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
resolves10.1016/S0959-4388(00)00129-X
Moving on to the cargo problem of microtubule-dependent motors in neurons
resolves10.1038/ng1001-160
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
resolves10.1126/science.277.5323.228
Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
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