List of works by Leonard Petrucelli

"What kills neurons in neurodegenerative diseases?", a review series in an open access journal

scientific article

A critical evaluation of the ubiquitin-proteasome system in Parkinson's disease

scientific article published on 03 February 2009

A novel tau mutation, p.K317N, causes globular glial tauopathy

scientific article published on 22 April 2015

ALS and FTD: an epigenetic perspective

scientific article

ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor

scientific article published on March 2014

APOE ε2 is associated with increased tau pathology in primary tauopathy

scientific article published in Nature Communications

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion

scientific article published on 22 September 2017

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

scholarly article

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging

scientific article

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance

scientific article published on 19 August 2013

Acetylation: a new key to unlock tau's role in neurodegeneration

scientific article

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

scientific article

Aging is not associated with proteasome impairment in UPS reporter mice

scientific article

Akt and CHIP coregulate tau degradation through coordinated interactions

scientific article

An acetylation-phosphorylation switch that regulates tau aggregation propensity and function

scientific article published on 31 July 2017

An autoradiographic evaluation of AV-1451 Tau PET in dementia

scientific article published on 13 June 2016

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

scientific article published on 16 October 2013

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

scientific article published on 05 September 2013

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

scientific article published on 2 May 2014

Brain CHIP: removing the culprits in neurodegenerative disease

scientific article published on 28 November 2006

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

scientific article published on 21 March 2016

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

scientific article published on 30 December 2015

CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation

scientific article (publication date: April 2004)

CHIP regulates leucine-rich repeat kinase-2 ubiquitination, degradation, and toxicity

scholarly article

Casein kinase II induced polymerization of soluble TDP-43 into filaments is inhibited by heat shock proteins

scientific article

Caught in the act: alpha-synuclein is the culprit in Parkinson's disease

scientific article published on October 2003

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

scientific article

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

scientific article

Commentary on "Cytoskeletal modulators and pleiotropic strategies for Alzheimer drug discovery." The last stand: the dichotomy of chaperone function in Alzheimer's disease.

scientific article published on 2 November 2006

Correction: Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue.

scientific article

Current strategies for the treatment of Alzheimer's disease and other tauopathies

scientific article published on October 2006

Development of a high throughput drug screening assay for the detection of changes in tau levels -- proof of concept with HSP90 inhibitors

scientific article published on April 2005

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.

scientific article

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

scientific article published on 14 October 2013

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

scientific article

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

scientific article

Disease Mechanisms of C9ORF72 Repeat Expansions

scientific article published on 27 January 2017

Disruption of protein quality control in Parkinson's disease

scientific article published in May 2012

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

scientific article published on 20 July 2015

Divergent phenotypes in mutant TDP-43 transgenic mice highlight potential confounds in TDP-43 transgenic modeling

scientific article published on 22 January 2014

Does obesity-induced τ phosphorylation tip the scale toward dementia?

scientific article published on May 2013

ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43.

scientific article

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Erratum to: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

scientific article published on 9 April 2014

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

scientific article

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

scientific article published on 26 October 2011

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

scientific article published on 16 August 2016

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

scientific article

Gene dosage and pathogenesis of Parkinson's disease

scientific article

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

HSP induction mediates selective clearance of tau phosphorylated at proline-directed Ser/Thr sites but not KXGS (MARK) sites

scientific article published on 7 February 2006

Identification of potential protein interactors of Lrrk2

scientific article

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

scientific article published on 15 May 2017

Inhibitors of leucine-rich repeat kinase-2 protect against models of Parkinson's disease ⬇️

scientific article published on August 22, 2010

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions

scientific article published on 26 March 2016

Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity

scientific article

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

scholarly article by Mark T W Ebbert published in August 2018

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation

scientific article

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.

scientific article published on 31 May 2018

Loss of clusterin shifts amyloid deposition to the cerebrovasculature via disruption of perivascular drainage pathways

scientific article published on 12 July 2017

Mechanisms and models of TDP-43 proteinopathies

scientific article published on 7 February 2012

Mechanisms of toxicity in C9FTLD/ALS.

scientific article published on 07 January 2014

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

scientific article published on 10 December 2012

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

scientific article

Molecular pathogenesis of Parkinson disease

scientific article

Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging

scientific article

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

scientific article

Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction

scientific article

Neuropathology of Parkinson's Disease

scholarly article published 2008

Neurotoxic effects of TDP-43 overexpression in C. elegans

scientific article

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

scientific article published on February 2014

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

scientific article

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia

scientific article

Parkin is protective for substantia nigra dopamine neurons in a tau gene transfer neurodegeneration model

scientific article published on 22 March 2006

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

scientific article

Pharmacologic reductions of total tau levels; implications for the role of microtubule dynamics in regulating tau expression

scientific article published on 26 July 2006

Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on 19 June 2017

Phosphorylation regulates proteasomal-mediated degradation and solubility of TAR DNA binding protein-43 C-terminal fragments

scientific article

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

scientific article published on 6 April 2018

Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

scientific article published on 20 September 2016

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

Progranulin axis and recent developments in frontotemporal lobar degeneration

scientific article published on 23 January 2012

Progranulin regulates neuronal outgrowth independent of sortilin

scientific article

Progranulin: an emerging target for FTLD therapies

scientific article published on 28 January 2012

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

scientific article published on 07 August 2013

Proteasome inhibition and Parkinson's disease modeling

scientific article published on August 2006

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

scientific article published on 15 September 2015

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

scientific article published on 16 October 2013

RNA-mediated toxicity in neurodegenerative disease

scientific article published on 29 December 2012

Rates of hippocampal atrophy and presence of post-mortem TDP-43 in patients with Alzheimer's disease: a longitudinal retrospective study

scientific article published on 11 September 2017

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

scientific article published on 29 October 2013

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

scientific article published on 16 June 2017

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy

scientific article published on 11 May 2013

Rodent models of TDP-43 proteinopathy: investigating the mechanisms of TDP-43-mediated neurodegeneration

scientific article published on 3 August 2011

Selective forelimb impairment in rats expressing a pathological TDP-43 25 kDa C-terminal fragment to mimic amyotrophic lateral sclerosis

scientific article

Severe amygdala dysfunction in a MAPT transgenic mouse model of frontotemporal dementia

scientific article

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

scientific article published on 13 April 2017

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

scientific article

Staging TDP-43 pathology in Alzheimer's disease

scientific article

Structural determinants of the cellular localization and shuttling of TDP-43.

scientific article published on 28 October 2008

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight: Supplemental figures

article

TAR DNA-binding protein 43 and pathological subtype of Alzheimer's disease impact clinical features

scientific article

TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43

scientific article

TARDBP mutations in Parkinson's disease

scientific article

TDP-1, the Caenorhabditis elegans ortholog of TDP-43, limits the accumulation of double-stranded RNA.

scientific article

TDP-1/TDP-43 regulates stress signaling and age-dependent proteotoxicity in Caenorhabditis elegans

scientific article

TDP-43 AMPLIFIES MEMORY LOSS AND HIPPOCAMPAL ATROPHY IN ALZHEIMER'S DISEASE

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor

scientific article published on 27 November 2015

TDP-43 in neurodegenerative disorders

TDP-43 is a key player in the clinical features associated with Alzheimer's disease

scientific article

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.

scientific article published on 8 January 2018

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

scientific article published in August 2017

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TRIO gene segregation in a family with cerebellar ataxia

article

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue ⬇️

scientific article published on October 11, 2010

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency

scientific journal article

Targeting Abeta and tau in Alzheimer's disease, an early interim report

scientific article

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

scientific article

Tau aggregation influences cognition and hippocampal atrophy in the absence of beta-amyloid: a clinico-imaging-pathological study of primary age-related tauopathy (PART).

scientific article

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model

scientific article

Tau triage decisions mediated by the chaperone network

scientific article published on January 2013

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

scientific article published on 04 July 2013

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

scientific article

The high-affinity HSP90-CHIP complex recognizes and selectively degrades phosphorylated tau client proteins

scientific article published on 15 February 2007

The lysosomal protein cathepsin L is a progranulin protease

scientific article

The role of tau in neurodegeneration

scientific article published on 11 March 2009

The ubiquitin-proteasome reporter GFPu does not accumulate in neurons of the R6/2 transgenic mouse model of Huntington's disease

scientific article

Three repeat isoforms of tau inhibit assembly of four repeat tau filaments

scientific article

Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia

scientific article published on 22 October 2016

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

scientific article

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

scientific article

Understanding biomarkers of neurodegeneration: Novel approaches to detecting tau pathology.

scientific article published in March 2015

Updated TDP-43 in Alzheimer's disease staging scheme

scientific article published on 25 January 2016

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

scientific article

c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 12 July 2013

Paulina is supported by:

About Paulina

Help