Search Results - "SIDDIQUE, TEEPU"

Sporadic and hereditary amyotrophic lateral sclerosis (ALS) by Ajroud-Driss, Senda, Siddique, Teepu

“…Genetic discoveries in ALS have a significant impact on deciphering molecular mechanisms of motor neuron degeneration. The identification of SOD1 as the first…”
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia by Deng, Han-Xiang, Chen, Wenjie, Hong, Seong-Tshool, Boycott, Kym M., Gorrie, George H., Siddique, Nailah, Yang, Yi, Fecto, Faisal, Shi, Yong, Zhai, Hong, Jiang, Hujun, Hirano, Makito, Rampersaud, Evadnie, Jansen, Gerard H., Donkervoort, Sandra, Bigio, Eileen H., Brooks, Benjamin R., Ajroud, Kaouther, Sufit, Robert L., Haines, Jonathan L., Mugnaini, Enrico, Pericak-Vance, Margaret A., Siddique, Teepu

“…Ubiquilin 2 pathology in ALS and ALS/dementia A study of a five-generation family with the usually fatal disorder amyotrophic lateral sclerosis (ALS) has…”
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UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia by Fecto, Faisal, Siddique, Teepu

“…Recent findings highlight a pathologic and functional convergence in amyotrophic lateral sclerosis (ALS) and amyotrophic lateral sclerosis with frontotemporal…”
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FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis by Deng, Han-Xiang, Zhai, Hong, Bigio, Eileen H., Yan, Jianhua, Fecto, Faisal, Ajroud, Kaouther, Mishra, Manjari, Ajroud-Driss, Senda, Heller, Scott, Sufit, Robert, Siddique, Nailah, Mugnaini, Enrico, Siddique, Teepu

“…Objective Amyotrophic lateral sclerosis (ALS) is a fatal disorder of motor neuron degeneration. Most cases of ALS are sporadic (SALS), but about 5 to 10% of…”
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Identification of TMEM230 mutations in familial Parkinson's disease by Deng, Han-Xiang, Shi, Yong, Yang, Yi, Ahmeti, Kreshnik B, Miller, Nimrod, Huang, Cao, Cheng, Lijun, Zhai, Hong, Deng, Sheng, Nuytemans, Karen, Corbett, Nicola J, Kim, Myung Jong, Deng, Hao, Tang, Beisha, Yang, Ziquang, Xu, Yanming, Chan, Piu, Huang, Bo, Gao, Xiao-Ping, Song, Zhi, Liu, Zhenhua, Fecto, Faisal, Siddique, Nailah, Foroud, Tatiana, Jankovic, Joseph, Ghetti, Bernardino, Nicholson, Daniel A, Krainc, Dimitri, Melen, Onur, Vance, Jeffery M, Pericak-Vance, Margaret A, Ma, Yong-Chao, Rajput, Ali H, Siddique, Teepu

“…Han-Xiang Deng and colleagues identify TMEM230 mutations in Lewy body–confirmed Parkinson's disease. They also show evidence that disease-associated TMEM230…”
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ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function by Wu, Josephine J., Cai, Ashley, Greenslade, Jessie E., Higgins, Nicole R., Fan, Cong, Le, Nhat T. T., Tatman, Micaela, Whiteley, Alexandra M., Prado, Miguel A., Dieriks, Birger V., Curtis, Maurice A., Shaw, Christopher E., Siddique, Teepu, Faull, Richard L. M., Scotter, Emma L., Finley, Daniel, Monteiro, Mervyn J.

“…Mutations in UBQLN2 cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other neurodegenerations. However, the mechanism by which the…”
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A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis by Edens, Brittany M, Yan, Jianhua, Miller, Nimrod, Deng, Han-Xiang, Siddique, Teepu, Ma, Yongchao C

“…The etiological underpinnings of amyotrophic lateral sclerosis (ALS) are complex and incompletely understood, although contributions to pathogenesis by…”
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Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology by Kwan, Justin Y, Jeong, Suh Young, Van Gelderen, Peter, Deng, Han-Xiang, Quezado, Martha M, Danielian, Laura E, Butman, John A, Chen, Lingye, Bayat, Elham, Russell, James, Siddique, Teepu, Duyn, Jeff H, Rouault, Tracey A, Floeter, Mary Kay

“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by cortical and spinal motor neuron dysfunction. Routine magnetic…”
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Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS by Deng, Han-Xiang, Zhai, Hong, Shi, Yong, Liu, Guoxiang, Lowry, Jessica, Liu, Bin, Ryan, Éanna B., Yan, Jianhua, Yang, Yi, Zhang, Nigel, Yang, Zhihua, Liu, Erdong, Ma, Yongchao C., Siddique, Teepu

“…CRISPR/Cas9-mediated genome editing provides potential for therapeutic development. Efficacy and long-term safety represent major concerns that remain to be…”
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Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus by Zhong, Yongwang, Wang, Jiou, Henderson, Mark J, Yang, Peixin, Hagen, Brian M, Siddique, Teepu, Vogel, Bruce E, Deng, Han-Xiang, Fang, Shengyun

“…Over 170 different mutations in the gene encoding SOD1 all cause amyotrophic lateral sclerosis (ALS). Available studies have been primarily focused on the…”
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Defining SOD1 ALS natural history to guide therapeutic clinical trial design by Bali, Taha, Self, Wade, Liu, Jingxia, Siddique, Teepu, Wang, Leo H, Bird, Thomas D, Ratti, Elena, Atassi, Nazem, Boylan, Kevin B, Glass, Jonathan D, Maragakis, Nicholas J, Caress, James B, McCluskey, Leo F, Appel, Stanley H, Wymer, James P, Gibson, Summer, Zinman, Lorne, Mozaffar, Tahseen, Callaghan, Brian, McVey, April L, Jockel-Balsarotti, Jennifer, Allred, Peggy, Fisher, Elena R, Lopate, Glenn, Pestronk, Alan, Cudkowicz, Merit E, Miller, Timothy M

“…ImportanceUnderstanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALSSOD1) will provide key information for…”
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Hyperactive Intracellular Calcium Signaling Associated with Localized Mitochondrial Defects in Skeletal Muscle of an Animal Model of Amyotrophic Lateral Sclerosis by Zhou, Jingsong, Yi, Jianxun, Fu, Ronggen, Liu, Erdong, Siddique, Teepu, Ríos, Eduardo, Deng, Han-Xiang

“…Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by degeneration of motor neurons and atrophy of skeletal muscle. Mutations…”
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Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis by Lee, Sebum, Shang, Yulei, Redmond, Stephanie A., Urisman, Anatoly, Tang, Amy A., Li, Kathy H., Burlingame, Alma L., Pak, Ryan A., Jovičić, Ana, Gitler, Aaron D., Wang, Jinhua, Gray, Nathanael S., Seeley, William W., Siddique, Teepu, Bigio, Eileen H., Lee, Virginia M.-Y., Trojanowski, John Q., Chan, Jonah R., Huang, Eric J.

“…Persistent accumulation of misfolded proteins causes endoplasmic reticulum (ER) stress, a prominent feature in many neurodegenerative diseases including…”
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Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2 by Gorrie, George H., Fecto, Faisal, Radzicki, Daniel, Weiss, Craig, Shi, Yong, Dong, Hongxin, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Li, Sisi, Arrat, Hasan, Bigio, Eileen H., Disterhoft, John F., Martina, Marco, Mugnaini, Enrico, Siddique, Teepu, Deng, Han-Xiang

“…Mutations in the gene encoding ubiquilin2 ( UBQLN2 ) cause amyotrophic lateral sclerosis (ALS), frontotemporal type of dementia, or both. However, the…”
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Conversion to the Amyotrophic Lateral Sclerosis Phenotype Is Associated with Intermolecular Linked Insoluble Aggregates of SOD1 in Mitochondria by Deng, Han-Xiang, Shi, Yong, Furukawa, Yoshiaki, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Gorrie, George H., Khan, Mohammad S., Hung, Wu-Yen, Bigio, Eileen H., Lukas, Thomas, Canto, Mauro C. Dal, O'Halloran, Thomas V., Siddique, Teepu

“…Twenty percent of the familial form of amyotrophic lateral sclerosis (ALS) is caused by mutations in the Cu, Zn-superoxide dismutase gene (SOD1) through the…”
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ACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel Observation by Arrat, Hasan, Lukas, Thomas J, Siddique, Teepu

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex etiology and pathology that makes the development of new therapies difficult…”
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Disulfide Cross-Linked Protein Represents a Significant Fraction of ALS-Associated Cu, Zn-Superoxide Dismutase Aggregates in Spinal Cords of Model Mice by Furukawa, Yoshiaki, Fu, Ronggen, Deng, Han-Xiang, Siddique, Teepu, O'Halloran, Thomas V.

“…Point mutations in Cu, Zn-superoxide dismutase (SOD1) cause a familial form of the neurodegenerative disease amyotrophic lateral sclerosis (ALS). Aggregates of…”
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Presence of dendritic cells, MCP-1, and activated microglia/macrophages in amyotrophic lateral sclerosis spinal cord tissue by Henkel, Jenny S., Engelhardt, Joseph I., Siklós, László, Simpson, Ericka P., Kim, Seung H., Pan, Tianhong, Goodman, J. Clay, Siddique, Teepu, Beers, David R., Appel, Stanley H.

“…Dendritic cells are potent antigen‐presenting cells that initiate and amplify immune responses. To determine whether dendritic cells participate in…”
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Progressive Changes in Synaptic Inputs to Motoneurons in Adult Sacral Spinal Cord of a Mouse Model of Amyotrophic Lateral Sclerosis by Jiang, Mingchen, Schuster, Jenna E, Fu, Ronggen, Siddique, Teepu, Heckman, C. J

“…Amyotrophic lateral sclerosis (ALS) is characterized by progressive degeneration of motoneurons. One potential mechanism is excitotoxicity. We studied the…”
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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2 by Deng, Sheng, Feely, Shawna M. E., Shi, Yong, Zhai, Hong, Zhan, Luna, Siddique, Teepu, Deng, Han-Xiang, Shy, Michael E.

“…Mutations in TRPV4 are linked to a group of clinically distinct, but also overlapping axonal neuropathies, including Charcot–Marie–Tooth disease type 2C…”
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