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Identification and Characterization of ALS/FTD Associated Variants Using Whole Genome Sequencing

Description: Project Narrative Amyotrophic lateral sclerosis and frontotemporal dementia (ALS) represent a continuum of disease (ALS/FTD). The etiology of a vast majority of ALS/FTD cases is largely unknown restricted until recently by the high cost of whole genome sequencing. Here, we propose to identify and characterize genetic factors contributing to ALS/FTD using whole genome sequencing data furthering our understanding of disease pathogenesis.
Funding type: research
Funder scheme: R56
Start date: 2011-07-15
End date: 2022-08-31
Investigator: JOHN E LANDERS
Institution: UNIV OF MASSACHUSETTS MED SCH WORCESTER
Field: Medicine
Funded outputs count: 26
Funder award ID: R56NS073873
OpenAlex ID: G3472906866
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis
2024 · Calum Harvey, Marcel Weinreich, et al. · Heliyon · 12
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import
2023 · Jacob R. Mann, Elizabeth D. McKenna, et al. · Science Advances · 38
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Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
2022 · Ahmad Al Khleifat, Alfredo Iacoangeli, et al. · Frontiers in Cellular Neuroscience · 10
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
2022 · Sarah Opie-Martin, Alfredo Iacoangeli, et al. · Nature Communications · 58
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The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
2022 · Puja R Mehta, Alfredo Iacoangeli, et al. · Brain · 47
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ATXN2 intermediate expansions in amyotrophic lateral sclerosis
2022 · Jonathan D Glass, Ramita Dewan, et al. · Brain · 51
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ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function
2022 · Desiree M. Baron, Adam R. Fenton, et al. · Cell Reports · 98
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Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls
2022 · Dina Simkin, Vasileios Papakis, et al. · Stem Cell Reports · 66
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
2022 · Paul J. Hop, Ramona A.J. Zwamborn, et al. · Science Translational Medicine · 102
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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
2022 · Ahmad Al Khleifat, Alfredo Iacoangeli, et al. · npj Genomic Medicine · 45
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
2022 · Sai Zhang, Johnathan Cooper-Knock, et al. · Neuron · 115
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
2021 · Wouter van Rheenen, Rick A. A. van der Spek, et al. · Nature Genetics · 527
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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
2021 · Janel O. Johnson, Ruth Chia, et al. · JAMA Neurology · 85
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Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway
2021 · Yen-Chen Lin, Meenakshi Sundaram Kumar, et al. · Nature Neuroscience · 92
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia
2021 · Merel O. Mol, Tsz H. Wong, et al. · Neurology Genetics · 29
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
2021 · Sukhleen Kour, Deepa S. Rajan, et al. · Nature Communications · 51
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Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
2021 · Stephanie R Shepheard, Matthew D Parker, et al. · Journal of Neurology Neurosurgery & Psychiatry · 118
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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types
2021 · Sara Saez-Atienzar, Sara Bandres-Ciga, et al. · Science Advances · 95
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
2021 · Matthieu Moisse, Ramona A. J. Zwamborn, et al. · Annals of Neurology · 16
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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
2020 · Johnathan Cooper-Knock, Sai Zhang, et al. · Cell Reports · 39
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Ramita Dewan, Ruth Chia, et al. · Neuron · 82
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ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
2020 · Gijs H P Tazelaar, Steven Boeynaems, et al. · Brain Communications · 53
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Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
2019 · Irit Reichenstein, Chen Eitan, et al. · Science Translational Medicine · 54
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk
2019 · Hyerim Kim, Junghwa Lim, et al. · Human Molecular Genetics · 7
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Genetics of Amyotrophic Lateral Sclerosis
2017 · Mehdi Ghasemi, Robert H. Brown · Cold Spring Harbor Perspectives in Medicine · 266
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