Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons (Q37708363)

22 August 2017

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons (English)

1 reference

22 August 2017

1 reference

11

1 reference

22 August 2017

Leah Boyer

9

0 references

Iryna Prots

Iryna Prots

4

0 references

Angelika Lampert

Angelika Lampert

15

0 references

Beate Winner

Beate Winner

19

0 references

Heinrich Sticht

Heinrich Sticht

Ursula Schlötzer-Schrehardt

12

0 references

16

Ursula Schlötzer-Schrehardt

1 reference

22 August 2017

18

Fred H Gage

1 reference

22 August 2017

10

Maria C N Marchetto

1 reference

22 August 2017

17

Jürgen Winkler

1 reference

22 August 2017

Steven Havlicek

1

1 reference

22 August 2017

Zacharias Kohl

2

1 reference

22 August 2017

Himanshu K Mishra

3

1 reference

22 August 2017

Esther Eberhardt

5

1 reference

22 August 2017

Naime Denguir

6

1 reference

22 August 2017

Holger Wend

7

1 reference

22 August 2017

Sonja Plötz

8

1 reference

22 August 2017

Teja W Groemer

13

1 reference

22 August 2017

Ute Hehr

14

1 reference

22 August 2017

30 December 2013

1 reference

22 August 2017

Human Molecular Genetics

1 reference

22 August 2017

23

1 reference

22 August 2017

10

1 reference

22 August 2017

2527-2541

1 reference

describes a project that uses

22 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3990156/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

NMD: a multifaceted response to premature translational termination

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Structural basis of semaphorin-plexin signalling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Listening to silence and understanding nonsense: exonic mutations that affect splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

An essential role for katanin in severing microtubules in the neuron

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Axonal transport deficits and neurodegenerative diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Cellular pathways of hereditary spastic paraplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Hereditary spastic paraplegias: membrane traffic and the motor pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Pleiotropic effects of spastin on neurite growth depending on expression levels

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Induction of pluripotent stem cells from fibroblast cultures

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Spastin in the human and mouse central nervous system with special reference to its expression in the hippocampus of mouse pilocarpine model of status epilepticus and temporal lobe epilepsy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990156

Establishment of fibroblast cultures

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24381312

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

LOXL1 deficiency in the lamina cribrosa as candidate susceptibility factor for a pseudoexfoliation-specific risk of glaucoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24381312

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT644

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24381312

1 reference