Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

Ubiquilin 2: A component of the ubiquitin–proteasome system with an emerging role in neurodegeneration

(2014) Katharine Y. Zhang et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

(2014) Yvette C. Wong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

(2013) Vladimir L Buchman et al.   Molecular Neurodegeneration

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study

(2013) J. Cooper-Knock et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington’s, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease

(2012) Fumiaki Mori et al.   ACTA NEUROPATHOLOGICA

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Toward an integrative view of Optineurin functions

(2012) David Kachaner et al.   CELL CYCLE

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates

(2012) J. Korac et al.   JOURNAL OF CELL SCIENCE

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

(2012) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

(2012) Lauren Johnson et al.   NEUROBIOLOGY OF AGING

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

(2012) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

(2012) Jochen H. Weishaupt et al.   NEUROBIOLOGY OF AGING

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

Optineurin is colocalized with ubiquitin in Marinesco bodies

(2011) Claudia Schwab et al.   ACTA NEUROPATHOLOGICA

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

(2011) Tibor Hortobágyi et al.   ACTA NEUROPATHOLOGICA

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

Optineurin mutations in Japanese amyotrophic lateral sclerosis: Table 1

(2011) Aritoshi Iida et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening of OPTN in French familial amyotrophic lateral sclerosis

(2011) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

(2011) Jennifer A. Solski et al.   NEUROBIOLOGY OF AGING

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

(2011) Zeynep Tümer et al.   NEUROBIOLOGY OF AGING

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 in neurodegenerative diseases

(2011) Tenshi Osawa et al.   NEUROPATHOLOGY

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

Effects of gender in amyotrophic lateral sclerosis

(2010) Pamela A. McCombe et al.   Gender Medicine

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

(2010) Véronique V. Belzil et al.   NEUROBIOLOGY OF AGING

Mutant Huntingtin Impairs Post-Golgi Trafficking to Lysosomes by Delocalizing Optineurin/Rab8 Complex from the Golgi Apparatus

(2009) Daniel del Toro et al.   MOLECULAR BIOLOGY OF THE CELL

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Diagnosis and management of motor neurone disease

(2008) Christopher J McDermott et al.   BMJ-British Medical Journal