Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

European journal of neurology - 1 Dec 2007

Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder selectively affecting axons of spinal cord motoneurons. Classical mutations in the most frequent HSP gene SPAST (spastin protein) act through haploinsufficiency by abolishing the activity of a C-terminal ATPase domain or by interfering with expression from the affected allele. N-terminal missense variants have been suggested to represent rare...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Alternative Splicing

Share to Mutation, Missense

Share to Protein Isoforms

Share to Protein Structure, Tertiary

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 17916079
DOI: 10.1111/j.1468-1331.2007.01971.x

Genes

SPAST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.PMID 17916079Read ↗

Clinical features of hereditary spastic paraplegia due to spastin mutation.Semantic proximity Read ↗

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.Semantic proximity Read ↗

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.Semantic proximity Read ↗

Amplifying the spectrum of SPAST gene mutations.Semantic proximity Read ↗

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.Semantic proximity Read ↗

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.Semantic proximity Read ↗

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.Semantic proximity Read ↗

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sexSemantic proximity Read ↗

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.Semantic proximity Read ↗

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.Semantic proximity Read ↗

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.Semantic proximity Read ↗

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.