Search Results - "Bott, Laura C"

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD by Tresse, Emilie, Salomons, Florian A., Vesa, Jouni, Bott, Laura C., Kimonis, Virginia, Yao, Tso-Pang, Dantuma, Nico P., Taylor, J. Paul

“…VCP (VCP/p97) is a ubiquitously expressed member of the AAA + -ATPase family of chaperone-like proteins that regulates numerous cellular processes including…”
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A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy by Bott, Laura C, Badders, Nisha M, Chen, Ke-Lian, Harmison, George G, Bautista, Elaine, Shih, Charles C-Y, Katsuno, Masahisa, Sobue, Gen, Taylor, J Paul, Dantuma, Nico P, Fischbeck, Kenneth H, Rinaldi, Carlo

“…Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of…”
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The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution by Dantuma, Nico P, Bott, Laura C

“…The ubiquitin-proteasome system (UPS) has been implicated in neurodegenerative diseases based on the presence of deposits consisting of ubiquitylated proteins…”
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Muscle Matters in Kennedy’s Disease by Rinaldi, Carlo, Bott, Laura C., Fischbeck, Kenneth H.

“…Polyglutamine expansion in the androgen receptor causes Kennedy’s disease. Two recent reports, Cortes et al. (2014) in this issue of Neuron and Lieberman…”
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MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy by Pourshafie, Naemeh, Lee, Philip R, Chen, Ke-lian, Harmison, George G, Bott, Laura C, Katsuno, Masahisa, Sobue, Gen, Burnett, Barrington G, Fischbeck, Kenneth H, Rinaldi, Carlo

“…Spinal and bulbar muscular atrophy (SBMA) is a currently untreatable adult-onset neuromuscular disease caused by expansion of a polyglutamine repeat in the…”
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Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicity by Kitamura, Akira, Fujimoto, Ai, Kawashima, Rei, Lyu, Yidan, Sasaki, Kotetsu, Hamada, Yuta, Moriya, Kanami, Kurata, Ayumi, Takahashi, Kazuho, Brielmann, Reneé, Bott, Laura C., Morimoto, Richard I., Kinjo, Masataka

“…Carboxy terminal fragments (CTFs) of TDP-43 contain an intrinsically disordered region (IDR) and form cytoplasmic condensates containing amyloid fibrils. Such…”
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Shaping proteostasis at the cellular, tissue, and organismal level by Sala, Ambre J, Bott, Laura C, Morimoto, Richard I

“…The proteostasis network (PN) regulates protein synthesis, folding, transport, and degradation to maintain proteome integrity and limit the accumulation of…”
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Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy by Rinaldi, Carlo, Bott, Laura C, Chen, Ke-lian, Harmison, George G, Katsuno, Masahisa, Sobue, Gen, Pennuto, Maria, Fischbeck, Kenneth H

“…Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. Patients develop slowly…”
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Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients by Grunseich, Christopher, Zukosky, Kristen, Kats, Ilona R, Ghosh, Laboni, Harmison, George G, Bott, Laura C, Rinaldi, Carlo, Chen, Ke-lian, Chen, Guibin, Boehm, Manfred, Fischbeck, Kenneth H

“…Abstract Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is a motor neuron disease caused by polyglutamine repeat expansion in the androgen…”
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Embryo integrity regulates maternal proteostasis and stress resilience by Sala, Ambre J, Bott, Laura C, Brielmann, Renee M, Morimoto, Richard I

“…The proteostasis network is regulated by transcellular communication to promote health and fitness in metazoans. In , signals from the germline initiate the…”
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Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cues by Sala, Ambre J, Grant, Rogan A, Imran, Ghania, Morton, Claire, Brielmann, Renee M, Gorgoń, Szymon, Watts, Jennifer, Bott, Laura C, Morimoto, Richard I

“…The ability to sense and respond to proteotoxic insults declines with age, leaving cells vulnerable to chronic and acute stressors. Reproductive cues modulate…”
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A Conserved Unfoldase Activity for the p97 AAA-ATPase in Proteasomal Degradation by Beskow, Anne, Grimberg, Kristian Björk, Bott, Laura C., Salomons, Florian A., Dantuma, Nico P., Young, Patrick

“…The multifunctional AAA-ATPase p97 is one of the most abundant and conserved proteins in eukaryotic cells. The p97/Npl4/Ufd1 complex dislocates proteins that…”
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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia by Rinaldi, Carlo, Schmidt, Thomas, Situ, Alan J, Johnson, Janel O, Lee, Philip R, Chen, Ke-Lian, Bott, Laura C, Fadó, Rut, Harmison, George H, Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G, De Michele, Giuseppe, Santorelli, Filippo M, Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexis, Casals, Núria, Traynor, Bryan J, Blackstone, Craig, Ulmer, Tobias S, Fischbeck, Kenneth H

“…The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation…”
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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents by Pourshafie, Naemeh, Lee, Philip R, Chen, Ke-Lian, Harmison, George G, Bott, Laura C, Fischbeck, Kenneth H, Rinaldi, Carlo

“…RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In…”
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The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex by Bott, Laura C., Salomons, Florian A., Maric, Dragan, Liu, Yuhong, Merry, Diane, Fischbeck, Kenneth H., Dantuma, Nico P.

“…Polyglutamine expansion in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully…”
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Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat by Grunseich, Christopher, Kats, Ilona R, Bott, Laura C, Rinaldi, Carlo, Kokkinis, Angela, Fox, Derrick, Chen, Ke-lian, Schindler, Alice B, Mankodi, Ami K, Shrader, Joseph A, Schwartz, Daniel P, Lehky, Tanya J, Liu, Chia-Ying, Fischbeck, Kenneth H

“…Highlights • A detailed clinical study was done on an SBMA patient with a large 68 CAG repeat. • He had burning neuropathic pain, anhidrosis, and abnormal…”
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The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex by Bott, Laura C, Salomons, Florian A, Maric, Dragan, Liu, Yuhong, Merry, Diane, Fischbeck, Kenneth H, Dantuma, Nico P

“…Polyglutamine expansion in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully…”
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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy by Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo

“…Abstract The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a…”
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The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity by Belikov, Sergey, Bott, Laura C, Fischbeck, Kenneth H, Wrange, Örjan

“…Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) to more than 37 repeats is responsible for the X-linked…”
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Sexual Reassignment Fails to Prevent Kennedy's Disease by Lanman, Tyler A, Bakar, Dara, Badders, Nisha M, Burke, Ailbhe, Kokkinis, Angela, Shrader, Joseph A, Joe, Galen O, Schindler, Alice B, Bott, Laura C, Harmison, George G, Taylor, J Paul, Fischbeck, Kenneth H, Grunseich, Christopher

“…Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and…”
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