A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis by Corrionero Saiz, Ana, Horvitz, Howard Robert

“…The alfa-1 blob phenotype is partially rescued by the expression of the human C9orf72 protein, demonstrating that C9orf72 and alfa-1 function similarly. …”
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C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort by Tan, Yi Jayne, Yong, Alisa C. W., Foo, Jia Nee, Lian, Michelle M., Lim, Weng Khong, Dominguez, Jacqueline, Fong, Zhi Hui, Narasimhalu, Kaavya, Chiew, Hui Jin, Ng, Kok Pin, Ting, Simon K. S., Kandiah, Nagaendran, Ng, Adeline S. L.

“…Within mutation carriers, plasma NfL was highest in a C9orf72 expansion carrier, and CSF NfL was highest in a GRN splice variant carrier. …”
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An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients by Fraenkel, Ernest

“…We used a C9ORF72 Drosophila model to distinguish pathways contributing to disease phenotypes from compensatory ones and confirmed alterations in some pathways in postmortem spinal cord tissue of patients with ALS. …”
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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice by Peters, Owen M., Cabrera, Gabriela Toro, Tran, Helene, Gendron, Tania F., McKeon, Jeanne E., Metterville, Jake, Weiss, Alexandra, Wightman, Nicholas, Salameh, Johnny, Kim, Juhyun, Sun, Huaming, Boylan, Kevin B., Dickson, Dennis, Kennedy, Zachary, Lin, Ziqiang, Zhang, Yong-Jie, Daughrity, Lillian, Jung, Chris, Gao, Fen-Biao, Bosco, Daryl A., Brown, Solange P., de Jong, Pieter, Petrucelli, Leonard, Mueller, Christian, Brown, Robert H., Horvitz, Howard Robert, Sapp, Peter C.

“…To investigate the pathological role of C9ORF72 in these diseases, we generated a line of mice carrying a bacterial artificial chromosome containing exons 1 to 6 of the human C9ORF72 gene with approximately 500 repeats of the GGGGCC motif. …”
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Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis by Ho, Wan Yun, Navakkode, Sheeja, Liu, Fujia, Soong, Tuck Wah, Ling, Shuo-Chien

“…Synergies between loss of C9ORF72 functions and gain of toxicities from the repeat expansions contribute to C9ORF72-mediated pathogenesis. …”
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Formation of RNA G-wires by G₄C₂ repeats associated with ALS and FTD by Bose, Krishnashish, Maity, Arijit, Ngo, Khac Huy, Vandana, J. Jeya, Shneider, Neil A., Phan, Anh Tuân

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Systems Biology Approaches for Elucidating Early ALS Disease Processes by Li, Jonathan

“…Integrating these findings with results from a C9orf72 Drosophila model, I found causal and compensatory pathways that may be active in C9-ALS. …”
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Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement by Ng, Adeline S. L., Tan, Yi Jayne, Yi, Zhao, Tandiono, Moses, Chew, Elaine, Dominguez, Jacqueline, Macas, Mabel, Ng, Ebonne, Hameed, Shahul, Ting, Simon, Tan, Eng King, Foo, Jia Nee, Kandiah, Nagaendran

“…To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. …”
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Repeat expansion detection in neurodegenerative diseases with CRISPR/Cas9-targeted long read sequencing by Phua, Kimberly

“…I optimised a third-generation long read sequencing strategy by Oxford Nanopore Technologies for targeting the repeat expansion genes HTT, NOTCH2NLC, C9orf72 and RFC1 using CRISPR/Cas9 and applied this to eleven patient samples to determine repeat numbers across these genes. …”
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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion by Spataro, Rossella, Kousi, Maria, Farhan, Sali M K, Willer, Jason R, Ross, Jay P, Dion, Patrick A, Rouleau, Guy A, Daly, Mark J, Neale, Benjamin M, La Bella, Vincenzo, Katsanis, Nicholas

“…To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases. …”
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Detection of long repeat expansions from PCR-free whole-genome sequence data by Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A., Housman, David E, Ng, Christopher W., Li, Alina L.

“…We applied our algorithm to WGS data from 3001 ALS patients who have been tested for the presence of the C9orf72 repeat expansion with repeat-primed PCR (RP-PCR). …”
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Novel optineurin frameshift insertion in a family with frontotemporal dementia and parkinsonism without amyotrophic lateral sclerosis by Dominguez, Jacqueline, Yu, Jeryl Tan, Tan, Jayne Yi, Ng, Arlene, De Guzman, Ma Fe, Natividad, Boots, Daroy, Ma Luisa, Cano, Jemellee, Yu, Justine, Lian, Michelle Mulan, Zeng, Li, Lim, Weng Khong, Foo, Jia Nee, Ng, Adeline S. L.

“…Mutations in three genes are associated with the majority of familial FTD (fFTD) cases - microtubule associated protein tau gene (MAPT), granulin precursor (GRN), and hexanucleotide repeat expansions in chromosome 9 open reading frame 72- SMCR8complex subunit (C9orf72) while mutations in other genes such as optineurin (OPTN) have rarely been reported. …”
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