Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

[HTML][HTML] CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

KL Williams, S Topp, S Yang, B Smith, JA Fifita… - Nature …, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping,
fatal neurodegenerative disorders in which the molecular and pathogenic basis remains …

[PDF][PDF] ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda… - The American Journal of …, 2013 - cell.com
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by
the degeneration of motor neurons and typically results in death within 3–5 years from onset …

Exome sequencing to identify de novo mutations in sporadic ALS trios

A Chesi, BT Staahl, A Jovičić, J Couthouis… - Nature …, 2013 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose
causes are still poorly understood. To identify additional genetic risk factors, we assessed …

Cyclin F: a component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer

J Galper, SL Rayner, AL Hogan, JA Fifita, A Lee… - The international journal …, 2017 - Elsevier
Cyclin F, encoded by CCNF, is the substrate recognition component of the Skp1-Cul1-F-box
E3 ubiquitin ligase complex, SCF cyclin F. E3 ubiquitin ligases play a key role in ubiquitin …

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

BG Trist, S Genoud, S Roudeau, A Rookyard… - Brain, 2022 - academic.oup.com
Aberrant self-assembly and toxicity of wild-type and mutant superoxide dismutase 1 (SOD1)
has been widely examined in silico, in vitro and in transgenic animal models of amyotrophic …

Pathophysiological insights into ALS with C9ORF72 expansions

KL Williams, JA Fifita, S Vucic, JC Durnall… - Journal of Neurology …, 2013 - jnnp.bmj.com
Objective Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of
familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases …

[HTML][HTML] Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

B Benyamin, J He, Q Zhao, J Gratten, F Garton… - Nature …, 2017 - nature.com
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology
and population-specific genetic architecture. In particular, the differences in linkage …

Defects in optineurin-and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

V Sundaramoorthy, AK Walker, V Tan… - Human molecular …, 2015 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder primarily affecting
motor neurons. Mutations in optineurin cause a small proportion of familial ALS cases, and …

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

EP McCann, L Henden, JA Fifita, KY Zhang… - Journal of medical …, 2021 - jmg.bmj.com
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with
phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while …