Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.
Nan H et al.
Internal Medicine (tokyo, Japan), 2020
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU et al.
Journal of Human Genetics, 2016
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A et al.
Human Molecular Genetics, 2002
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
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