Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia (Q34264724)

1 August 2017

Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia (English)

1 reference

1 August 2017

Kathryn M Albers

6

0 references

author name string

Brian J Henson

1

1 reference

1 August 2017

Wan Zhu

2

1 reference

1 August 2017

Kelsey Hardaway

3

1 reference

1 August 2017

Jaime L Wetzel

4

1 reference

1 August 2017

Mihaela Stefan

5

1 reference

1 August 2017

Robert D Nicholls

7

1 reference

1 August 2017

language of work or name

English

0 references

publication date

4 May 2012

1 reference

1 August 2017

1 reference

1 August 2017

7

1 reference

1 August 2017

5

1 reference

1 August 2017

e36505

1 reference

Creative Commons Attribution 4.0 International

1 August 2017

start time

4 May 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3344893/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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6 July 2018

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6 July 2018

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The AAA ATPase spastin links microtubule severing to membrane modelling.

6 July 2018

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MicroRNA expression profiling reveals miRNA families regulating specific biological pathways in mouse frontal cortex and hippocampus

6 July 2018

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A potential link between autoimmunity and neurodegeneration in immune-mediated neurological disease

6 July 2018

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6 July 2018

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SPG4 gene promoter regulation via Elk1 transcription factor

6 July 2018

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AMPK activation, a preventive therapeutic target in the transition from cardiac injury to heart failure

6 July 2018

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Hereditary spastic paraplegias: membrane traffic and the motor pathway

6 July 2018

1 reference

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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

6 July 2018

1 reference

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Human miR-1271 is a miR-96 paralog with distinct non-conserved brain expression pattern

6 July 2018

1 reference

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Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia

6 July 2018

1 reference

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Wnt-3a and Wnt-3 differently stimulate proliferation and neurogenesis of spinal neural precursors and promote neurite outgrowth by canonical signaling

6 July 2018

1 reference

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Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Mammalian microRNAs predominantly act to decrease target mRNA levels

6 July 2018

1 reference

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6 July 2018

1 reference

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Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors

6 July 2018

1 reference

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Comparative profiling of microRNA expression between neural stem cells and motor neurons in embryonic spinal cord in rat.

6 July 2018

1 reference

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

6 July 2018

1 reference

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Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers

6 July 2018

1 reference

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Sequential requirement of Sox4 and Sox11 during development of the sympathetic nervous system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Phylogenomic analyses reveal convergent patterns of adaptive evolution in elephant and human ancestries

6 July 2018

1 reference

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Concordant regulation of translation and mRNA abundance for hundreds of targets of a human microRNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

6 July 2018

1 reference

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Interactions between SOX factors and Wnt/beta-catenin signaling in development and disease

6 July 2018

1 reference

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AMPK in Health and Disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

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

6 July 2018

1 reference

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Diversity and complexity in DNA recognition by transcription factors

6 July 2018

1 reference

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Wnt5a induces simultaneous cortical axon outgrowth and repulsive axon guidance through distinct signaling mechanisms

6 July 2018

1 reference

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Evidence for co-evolution between human microRNAs and Alu-repeats

6 July 2018

1 reference

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Genome-wide promoter analysis of the SOX4 transcriptional network in prostate cancer cells

6 July 2018

1 reference

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A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

The impact of microRNAs on protein output

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

The three SoxC proteins--Sox4, Sox11 and Sox12--exhibit overlapping expression patterns and molecular properties

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Transcriptional paradigms in mammalian mitochondrial biogenesis and function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Nuclear respiratory factor 1 controls myocyte enhancer factor 2A transcription to provide a mechanism for coordinate expression of respiratory chain subunits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

MicroRNA-183 family conservation and ciliated neurosensory organ expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Hereditary spastic paraplegias: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

The HMG-box: a versatile protein domain occurring in a wide variety of DNA-binding proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Can experiments in nonhuman primates expedite the translation of treatments for spinal cord injury in humans?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Resveratrol stimulates AMP kinase activity in neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

SRY-box containing gene 11 (Sox11) transcription factor is required for neuron survival and neurite growth.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Activity-dependent transcriptional regulation of nuclear respiratory factor-1 in cultured rat visual cortical neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Ryk-mediated Wnt repulsion regulates posterior-directed growth of corticospinal tract

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

A novel function of transcription factor alpha-Pal/NRF-1: increasing neurite outgrowth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Mammalian Ryk is a Wnt coreceptor required for stimulation of neurite outgrowth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

A divergent canonical WNT-signaling pathway regulates microtubule dynamics: dishevelled signals locally to stabilize microtubules

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Is the transportation highway the right road for hereditary spastic paraplegia?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

A system for stable expression of short interfering RNAs in mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Chronic activation of AMP kinase results in NRF-1 activation and mitochondrial biogenesis

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

6 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Pleiotropic effects of spastin on neurite growth depending on expression levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Conserved regions of the Drosophila erect wing protein contribute both positively and negatively to transcriptional activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Transcription factor binding sites and other features in human and Drosophila proximal promoters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

Sox11 regulates survival and axonal growth of embryonic sensory neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036505

In vitro methylation of nuclear respiratory factor-1 binding site suppresses the promoter activity of mitochondrial transcription factor A.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344893

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22574173

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nuclear respiratory factor 1 activation sites in genes encoding the gamma-subunit of ATP synthase, eukaryotic initiation factor 2 alpha, and tyrosine aminotransferase. Specific interaction of purified NRF-1 with multiple target genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22574173

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0036505

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference