List of works - Aaron D Gitler

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A cellular system that degrades misfolded proteins and protects against neurodegeneration

scientific article published on 29 May 2014

A matter of balance

scientific article published on 21 August 2018

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

scientific article published on 02 April 2019

A suite of Gateway cloning vectors for high-throughput genetic analysis in Saccharomyces cerevisiae

scientific article

A versatile system to record cell-cell interactions

scientific article published on 07 October 2020

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

scholarly article

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

A yeast model for polyalanine-expansion aggregation and toxicity

scientific article

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

scientific article

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

scientific article

Analysis of COPII Vesicles Indicates a Role for the Emp47-Ssp120 Complex in Transport of Cell Surface Glycoproteins

scientific article published on 9 December 2015

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

scientific article

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

scientific article

Axonal transport and secretion of fibrillar forms of α-synuclein, Aβ42 peptide and HTTExon 1

scientific article published on 28 January 2016

Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity

scientific article

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

scientific article published on 09 April 2021

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

scientific article published on 5 March 2018

Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop

scientific article

Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity

scientific article

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

scientific article

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions ⬇️

scientific article published on April 21, 2012

Distinct repertoires of microRNAs present in mouse astrocytes compared to astrocyte-secreted exosomes

scientific article

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

scientific article

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

scientific article

Evidence that alpha-synuclein does not inhibit phospholipase D

scientific article

Evolution of a Human-Specific Tandem Repeat Associated with ALS

scientific article published on 26 July 2020

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

scientific article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome sequencing to identify de novo mutations in sporadic ALS trios

scientific article published on 26 May 2013

GTPase activity plays a key role in the pathobiology of LRRK2.

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

High-throughput yeast plasmid overexpression screen

scientific article

Hop is an unusual homeobox gene that modulates cardiac development

scientific article (publication date: 20 September 2002)

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

scientific article

Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways

scientific journal article

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

scientific article published on 27 July 2020

Local RNA Translation at the Synapse and in Disease: Figure 1 ⬇️

scientific article published on November 9, 2011

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

scientific article

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Neurodegenerative disease: models, mechanisms, and a new hope.

scientific article published on May 2017

Nf1 has an essential role in endothelial cells

scientific journal article

Parallel PARKing: Parkinson’s Genes Function in Common Pathway ⬇️

scientific article published on February 6, 2013

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein

scientific journal article

PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovascular development

scientific article

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

scientific article published on 25 June 2018

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats

scientific article (publication date: 29 March 2011)

Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.

scientific article published in June 2014

RNA-binding proteins with prion-like domains in ALS and FTLD-U ⬇️

scientific article published on July 1, 2011

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

scientific article published on 29 July 2019

Regrowing axons with alternative splicing.

scientific article published on 15 July 2016

Regulating heart development: the role of Nf1.

scientific article

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

Stress granules as crucibles of ALS pathogenesis.

scientific article published on April 2013

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

scientific article published on 23 February 2022

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

scientific article

The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis

scholarly article

The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

scientific article

The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast

scientific article

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

scientific article

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

scientific article

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

scientific article

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

scientific article published on 20 May 2019

List of works by Aaron D Gitler

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A cellular system that degrades misfolded proteins and protects against neurodegeneration

A matter of balance

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

A suite of Gateway cloning vectors for high-throughput genetic analysis in Saccharomyces cerevisiae

A versatile system to record cell-cell interactions

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

A yeast functional screen predicts new candidate ALS disease genes

A yeast model for polyalanine-expansion aggregation and toxicity

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

Analysis of COPII Vesicles Indicates a Role for the Emp47-Ssp120 Complex in Transport of Cell Surface Glycoproteins

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

Axonal transport and secretion of fibrillar forms of α-synuclein, Aβ42 peptide and HTTExon 1

Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop

Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions ⬇️

Distinct repertoires of microRNAs present in mouse astrocytes compared to astrocyte-secreted exosomes

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Evidence that alpha-synuclein does not inhibit phospholipase D

Evolution of a Human-Specific Tandem Repeat Associated with ALS

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome sequencing to identify de novo mutations in sporadic ALS trios

GTPase activity plays a key role in the pathobiology of LRRK2.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

High-throughput yeast plasmid overexpression screen

Hop is an unusual homeobox gene that modulates cardiac development

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways

Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model

Local RNA Translation at the Synapse and in Disease: Figure 1 ⬇️

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Neurodegenerative disease: models, mechanisms, and a new hope.

Nf1 has an essential role in endothelial cells

Parallel PARKing: Parkinson’s Genes Function in Common Pathway ⬇️

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein

PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovascular development

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats

Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.

RNA-binding proteins with prion-like domains in ALS and FTLD-U ⬇️

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Regrowing axons with alternative splicing.

Regulating heart development: the role of Nf1.

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

Stress granules as crucibles of ALS pathogenesis.

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis

The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD