List of works - Caroline Vance

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

scientific article published on 7 March 2013

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

scientific article published on 9 October 2015

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

scientific article published on 19 May 2017

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

scientific article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

scientific article published in October 2021

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

scientific article published on 5 July 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

scientific article published on 12 February 2008

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

scientific article

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

scientific article

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

scientific article published on 22 February 2006

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

scientific article published on 18 December 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Granule localization of glutaminase in human neutrophils and the consequence of glutamine utilization for neutrophil activity.

scientific article

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

scientific article published on 28 November 2017

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

article

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

scientific article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

scientific article published on 4 April 2017

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

scientific article

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

scientific article published on 01 March 2011

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

scientific article

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

scientific article published on 11 August 2012

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

scholarly article by Soragia Athina Gkazi et al published 24 August 2018 in Neurobiology of Aging

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

scientific article published on 13 July 2015

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

scientific article published on March 2016

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

scientific article published in August 2013

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

scientific article

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.

scientific article

List of works by Caroline Vance

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Granule localization of glutaminase in human neutrophils and the consequence of glutamine utilization for neutrophil activity.

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.