Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

Base excision DNA repair levels in mitochondrial lysates of Alzheimer's disease

(2014) Chandrika Canugovi et al.   NEUROBIOLOGY OF AGING

Incidence and Geographical Variation of Amyotrophic Lateral Sclerosis (ALS) in Southern Germany – Completeness of the ALS Registry Swabia

(2014) Hatice Uenal et al.   PLoS One

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

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

(2013) Jeanette Erdmann et al.   NATURE

Crystal Structure and Mechanism of Activation of TANK-Binding Kinase 1

(2013) Amede Larabi et al.   Cell Reports

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

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

p62/SQSTM1/A170: Physiology and pathology

(2012) Masaaki Komatsu et al.   PHARMACOLOGICAL RESEARCH

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force

(2011) et al.   EUROPEAN JOURNAL OF NEUROLOGY

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

(2011) John H. Fingert et al.   HUMAN MOLECULAR GENETICS

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Functional Dissection of the TBK1 Molecular Network

(2011) Adriana Goncalves et al.   PLoS One

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

TBK1 Mediates Crosstalk Between the Innate Immune Response and Autophagy

(2011) H. Weidberg et al.   Science Signaling

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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