List of works - Ian P Blair

TDP-43 mutations in familial and sporadic 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)

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

scientific article

Life events, first depression onset and the serotonin transporter gene

scientific article published in March 2006

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

scientific article published on 22 October 2014

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

scientific article published on November 2010

Exome sequencing to identify de novo mutations in sporadic ALS trios

scientific article published on 26 May 2013

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

scientific article

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

scientific article published on November 19, 2012

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

scientific article

Pathophysiological insights into ALS with C9ORF72 expansions.

scientific article published on 5 March 2013

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

scientific article

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

scientific article

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

scientific article

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

scientific article published on 25 June 2010

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1

scientific article published on 14 September 2015

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

scientific article published on 28 February 2014

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

scientific article published in March 1996

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

scientific article published on 18 August 2015

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

scientific article published on 10 June 2010

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

scientific article published on 9 April 2015

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

scientific article published on 4 April 2017

A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26

article

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

scientific article published on 20 January 2017

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

scientific article

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on April 28, 2013

Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.

scientific article

Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies

scientific article published on November 1, 2011

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34

scientific article published on 01 September 2000

Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort

scientific article published in October 2009

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

scientific article published on 13 March 2007

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

scientific article published on 22 January 2013

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

scientific article published in November 2009

A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma

scientific article published on 01 July 1998

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

scientific article

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

scientific article published on 29 August 2017

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

scientific article

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

scientific article

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling

scientific article published on 02 September 2020

A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35.

scientific article published in January 2002

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.

scientific article

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

scientific article published on 20 November 2014

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

scientific article published on 19 October 2017

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

scientific article published on 6 June 2017

List of works by Ian P Blair

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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

A yeast functional screen predicts new candidate ALS disease genes

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Life events, first depression onset and the serotonin transporter gene

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

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

Exome sequencing to identify de novo mutations in sporadic ALS trios

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

Pathophysiological insights into ALS with C9ORF72 expansions.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

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

A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.

Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34

Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling

A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35.

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.