CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

Morphology and Distribution of TDP-43 Pre-inclusions in Primary Progressive Aphasia

(2019) Garam Kim et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Shank3 regulates striatal synaptic abundance of Cyld, a deubiquitinase specific for Lys63‐linked polyubiquitin chains

(2019) Chunmei Jin et al.   JOURNAL OF NEUROCHEMISTRY

Cylindromatosis mediates neuronal cell death in vitro and in vivo

(2018) Goutham K. Ganjam et al.   CELL DEATH AND DIFFERENTIATION

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

(2018) Alexandra D. Gurzau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy and mitophagy in ALS

(2018) Chantell S. Evans et al.   NEUROBIOLOGY OF DISEASE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite Outgrowth

(2018) Pei-Ying Wang et al.   Cell Reports

Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib

(2018) Marina Danilenko et al.   JAMA Dermatology

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of selective autophagy: the p62/SQSTM1 paradigm

(2017) Trond Lamark et al.   Essays in Biochemistry

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2017) Julie van der Zee et al.   HUMAN MUTATION

Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

(2017) Zhiqiang Deng et al.   Molecular Neurodegeneration

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

(2017) Ian R. Mackenzie et al.   NEURON

Proteasome-independent polyubiquitin linkage regulates synapse scaffolding, efficacy, and plasticity

(2017) Qi Ma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

(2017) Jung-A. A. Woo et al.   Nature Communications

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

(2017) Veronica Hirsch-Reinshagen et al.   Acta Neuropathologica Communications

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation

(2016) Yoshinori Tanaka et al.   HUMAN MOLECULAR GENETICS

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

(2016) Andrew S. Moore et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Kelly L. Williams et al.   Nature Communications

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Clinical features ofTBK1carriers compared withC9orf72,GRNand non-mutation carriers in a Belgian cohort

(2015) Sara Van Mossevelde et al.   BRAIN

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

(2015) Nikoletta Nagy et al.   European Journal of Medical Genetics

Inherited cylindromas: lessons from a rare tumour

(2015) Neil Rajan et al.   LANCET ONCOLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

(2014) Vineeta Bhasker Tripathi et al.   NEUROBIOLOGY OF DISEASE

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

(2013) Carol Dobson-Stone et al.   ACTA NEUROPATHOLOGICA

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

CYLD, a deubiquitinase specific for lysine63-linked polyubiquitins, accumulates at the postsynaptic density in an activity-dependent manner

(2012) Ayse Dosemeci et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1

(2011) Weisong Duan et al.   BRAIN RESEARCH

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Optineurin Is Required for CYLD-Dependent Inhibition of TNFα-Induced NF-κB Activation

(2011) Ananthamurthy Nagabhushana et al.   PLoS One

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Regulation of neural process growth, elaboration and structural plasticity by NF-κB

(2011) Humberto Gutierrez et al.   TRENDS IN NEUROSCIENCES

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

(2010) H. Seelaar et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations

(2009) Neil Rajan et al.   ARCHIVES OF DERMATOLOGY

PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation

(2009) Elsa-Noah N'Diaye et al.   EMBO REPORTS

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

(2009) Patrick W. Blake et al.   HUMAN MUTATION

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

(2009) Patricia Lillo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

Maturation process of TDP-43-positive neuronal cytoplasmic inclusions in amyotrophic lateral sclerosis with and without dementia

(2008) Fumiaki Mori et al.   ACTA NEUROPATHOLOGICA

The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response

(2008) Constantin S Friedman et al.   EMBO REPORTS

Regulation of IκB Kinase-related Kinases and Antiviral Responses by Tumor Suppressor CYLD

(2008) Minying Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice

(2008) Wei Jin et al.   JOURNAL OF CLINICAL INVESTIGATION

The Structure of the CYLD USP Domain Explains Its Specificity for Lys63-Linked Polyubiquitin and Reveals a B Box Module

(2008) David Komander et al.   MOLECULAR CELL

Five New CYLD Mutations in Skin Appendage Tumors and Evidence that Aspartic Acid 681 in CYLD Is Essential for Deubiquitinase Activity

(2007) Stéphanie Almeida et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY