Optineurin and amyotrophic lateral sclerosis

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone

(2012) Laëtitia Michou et al.   BONE

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17

(2012) V. Vaibhava et al.   JOURNAL OF CELL SCIENCE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

(2012) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans

(2012) Lydia Coulter Kwee et al.   PLoS One

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

(2011) R. Del Bo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Optineurin mutations in Japanese amyotrophic lateral sclerosis: Table 1

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

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

(2011) Katsunobu Sugihara 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

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

(2011) Marka van Blitterswijk 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 with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation

(2011) Takemasa Sakaguchi et al.   NEUROSCIENCE LETTERS

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi 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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Familial aggregation of amyotrophic lateral sclerosis

(2009) Fang Fang et al.   ANNALS OF NEUROLOGY

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

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

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

(2009) Masaki Kamada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Ubiquitin binding mediates the NF-κB inhibitory potential of ABIN proteins

(2008) S Wagner et al.   ONCOGENE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE