HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

(2020) Jack Humphrey et al.   NUCLEIC ACIDS RESEARCH

The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis

(2020) Alexander Bampton et al.   ACTA NEUROPATHOLOGICA

A large-scale binding and functional map of human RNA-binding proteins

(2020) Eric L. Van Nostrand et al.   NATURE

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS

(2019) Lauren M. Gittings et al.   Acta Neuropathologica Communications

Molecular pathology of neurodegenerative diseases: principles and practice

(2019) Gabor G Kovacs   JOURNAL OF CLINICAL PATHOLOGY

C9-ALS/FTD-linked proline–arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation

(2019) Hiroaki Suzuki et al.   Cell Death & Disease

The SINEB1 element in the long non-coding RNA Malat1 is necessary for TDP-43 proteostasis

(2019) Tuan M Nguyen et al.   NUCLEIC ACIDS RESEARCH

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

Progress and Challenges in Frontotemporal Dementia Research: A 20-Year Review

(2018) John R. Hodges et al.   JOURNAL OF ALZHEIMERS DISEASE

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

HnRNP L represses cryptic exons

(2018) Sean P. McClory et al.   RNA

Heavy-tailed prior distributions for sequence count data: removing the noise and preserving large differences

(2018) Anqi Zhu et al.   BIOINFORMATICS

Review: Clinical, genetic and neuroimaging features of frontotemporal dementia

(2018) R. Convery et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

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

(2017) Diane Moujalled et al.   HUMAN MOLECULAR GENETICS

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells

(2017) Chiara Appocher et al.   NUCLEIC ACIDS RESEARCH

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene

(2017) Yvonne S. Davidson et al.   Acta Neuropathologica Communications

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

(2017) Yvonne S. Davidson et al.   Acta Neuropathologica Communications

The hnRNP family: insights into their role in health and disease

(2016) Thomas Geuens et al.   HUMAN GENETICS

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models

(2016) Qiumin Tan et al.   HUMAN MOLECULAR GENETICS

Heterogeneous nuclear ribonucleoprotein K is associated with poor prognosis and regulates proliferation and apoptosis in bladder cancer

(2016) Xu Chen et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

PTBP1 and PTBP2 Repress Nonconserved Cryptic Exons

(2016) Jonathan P. Ling et al.   Cell Reports

Splicing repression allows the gradual emergence of new Alu-exons in primate evolution

(2016) Jan Attig et al.   eLife

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Emerging roles of heterogeneous nuclear ribonucleoprotein K (hnRNP K) in cancer progression

(2014) Paola Barboro et al.   CANCER LETTERS

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

(2014) Diane Moujalled et al.   HUMAN MOLECULAR GENETICS

Loss of hnRNP K Impairs Synaptic Plasticity in Hippocampal Neurons

(2014) A. Folci et al.   JOURNAL OF NEUROSCIENCE

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Direct Competition between hnRNP C and U2AF65 Protects the Transcriptome from the Exonization of Alu Elements

(2013) Kathi Zarnack et al.   CELL

Frontotemporal dementia

(2013) J. D. Warren et al.   BMJ-British Medical Journal

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

(2012) Daniah Trabzuni et al.   HUMAN MOLECULAR GENETICS

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS

(2012) Atsushi Shiga et al.   PLoS One

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

hnRNP K post-transcriptionally co-regulates multiple cytoskeletal genes needed for axonogenesis

(2011) Y. Liu et al.   DEVELOPMENT

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

(2011) J. R. Tollervey et al.   GENOME RESEARCH

Translation of myelin basic protein mRNA in oligodendrocytes is regulated by integrin activation and hnRNP-K

(2011) Lisbeth S. Laursen et al.   JOURNAL OF CELL BIOLOGY

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

(2011) Daniah Trabzuni et al.   JOURNAL OF NEUROCHEMISTRY

BigWig and BigBed: enabling browsing of large distributed datasets

(2010) W. J. Kent et al.   BIOINFORMATICS

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions

(2009) Toshiyuki Fukuda et al.   GENES TO CELLS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing

(2008) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY