Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation

(2015) S. Liu et al.   SCIENCE

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

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Translating biological findings into new treatment strategies for amyotrophic lateral sclerosis (ALS)

(2014) Lindsay Poppe et al.   EXPERIMENTAL NEUROLOGY

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

(2014) Hannah M. Kaneb et al.   HUMAN MOLECULAR GENETICS

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

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

Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

(2014) Julien Couthouis et al.   PLoS Genetics

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

(2013) Matthew Thomas et al.   BRAIN

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

(2013) Mani Ramaswami et al.   CELL

Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis

(2013) Philip Van Damme et al.   CURRENT OPINION IN NEUROLOGY

Selective TBK1/IKKi dual inhibitors with anticancer potency

(2013) Jijia Li et al.   INTERNATIONAL JOURNAL OF CANCER

Genetics of amyotrophic lateral sclerosis: an update

(2013) Sheng Chen et al.   Molecular Neurodegeneration

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

(2012) Brian A. Keller et al.   ACTA NEUROPATHOLOGICA

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of d-amino acids in amyotrophic lateral sclerosis pathogenesis: a review

(2012) Praveen Paul et al.   AMINO ACIDS

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

Toward an integrative view of Optineurin functions

(2012) David Kachaner et al.   CELL CYCLE

Optineurin and amyotrophic lateral sclerosis

(2012) Hirofumi Maruyama et al.   Geriatrics & Gerontology International

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

(2012) Manohar Pilli et al.   IMMUNITY

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

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

(2012) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

p62/SQSTM1/A170: Physiology and pathology

(2012) Masaaki Komatsu et al.   PHARMACOLOGICAL RESEARCH

Novel cross-talk within the IKK family controls innate immunity

(2011) Kristopher Clark et al.   BIOCHEMICAL JOURNAL

Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β

(2011) Catherine E. Gleason et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Paradoxical roles of serine racemase and d-serine in the G93A mSOD1 mouse model of amyotrophic lateral sclerosis

(2011) Misty Thompson et al.   JOURNAL OF NEUROCHEMISTRY

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

(2011) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

Exome sequencing reveals SPG11 mutations causing juvenile ALS

(2011) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression

(2010) Edward L. Huttlin et al.   CELL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Defining the Human Deubiquitinating Enzyme Interaction Landscape

(2009) Mathew E. Sowa et al.   CELL

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis

(2008) Christoph Münch et al.   Amyotrophic Lateral Sclerosis

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

(2008) Simon Morton et al.   FEBS LETTERS