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REVIEW
Emily W Flanagan, Redin Spann, Sarah E Berry, Hans-Rudolf Berthoud, Stephanie Broyles, Gary D Foster, Jonathan Krakoff, Ruth J F Loos, Michael R Lowe, Danielle M Ostendorf, Tiffany M Powell-Wiley, Leanne M Redman, Michael Rosenbaum, Philip R Schauer, Randy J Seeley, Boyd A Swinburn, Kevin Hall, Eric Ravussin
Obesity is a chronic disease that affects more than 650 million adults worldwide. Obesity not only is a significant health concern on its own, but predisposes to cardiometabolic comorbidities, including coronary heart disease, dyslipidemia, hypertension, type 2 diabetes, and some cancers. Lifestyle interventions effectively promote weight loss of 5% to 10%, and pharmacological and surgical interventions even more, with some novel approved drugs inducing up to an average of 25% weight loss. Yet, maintaining weight loss over the long-term remains extremely challenging, and subsequent weight gain is typical...
December 2023: Obesity
#22
JOURNAL ARTICLE
Alice Y Hua, Ashlin R K Roy, Eena L Kosik, Nathaniel A Morris, Tiffany E Chow, Sladjana Lukic, Maxime Montembeault, Valentina Borghesani, Kyan Younes, Joel H Kramer, William W Seeley, David C Perry, Zachary A Miller, Howard J Rosen, Bruce L Miller, Katherine P Rankin, Maria Luisa Gorno-Tempini, Virginia E Sturm
In semantic dementia (SD), asymmetric degeneration of the anterior temporal lobes is associated with loss of semantic knowledge and alterations in socioemotional behavior. There are two clinical variants of SD: semantic variant primary progressive aphasia (svPPA), which is characterized by predominant atrophy in the anterior temporal lobe and insula in the left hemisphere, and semantic behavioral variant frontotemporal dementia (sbvFTD), which is characterized by predominant atrophy in those structures in the right hemisphere...
October 2, 2023: NeuroImage: Clinical
#23
Jessica E Rexach, Yuyan Cheng, Lawrence Chen, Damon Polioudakis, Li-Chun Lin, Vivianne Mitri, Andrew Elkins, Anna Yin, Daniela Calini, Riki Kawaguchi, Jing Ou, Jerry Huang, Christopher Williams, John Robinson, Stephanie E Gaus, Salvatore Spina, Edward B Lee, Lea T Grinberg, Harry Vinters, John Q Trojanowski, William W Seeley, Dheeraj Malhotra, Daniel H Geschwind
The development of successful therapeutics for dementias requires an understanding of their shared and distinct molecular features in the human brain. We performed single-nuclear RNAseq and ATACseq in Alzheimer disease (AD), Frontotemporal degeneration (FTD), and Progressive Supranuclear Palsy (PSP), analyzing 40 participants, yielding over 1.4M cells from three brain regions ranging in vulnerability and pathological burden. We identify 35 shared disease-associated cell types and 14 that are disease-specific, replicating those previously identified in AD...
September 30, 2023: bioRxiv
#24
JOURNAL ARTICLE
Romany Abskharon, Hope Pan, Michael R Sawaya, Paul M Seidler, Eileen J Olivares, Yu Chen, Kevin A Murray, Jeffrey Zhang, Carter Lantz, Megan Bentzel, David R Boyer, Duilio Cascio, Binh A Nguyen, Ke Hou, Xinyi Cheng, Els Pardon, Christopher K Williams, Alissa L Nana, Harry V Vinters, Salvatore Spina, Lea T Grinberg, William W Seeley, Jan Steyaert, Charles G Glabe, Rachel R Ogorzalek Loo, Joseph A Loo, David S Eisenberg
Despite much effort, antibody therapies for Alzheimer's disease (AD) have shown limited efficacy. Challenges to the rational design of effective antibodies include the difficulty of achieving specific affinity to critical targets, poor expression, and antibody aggregation caused by buried charges and unstructured loops. To overcome these challenges, we grafted previously determined sequences of fibril-capping amyloid inhibitors onto a camel heavy chain antibody scaffold. These sequences were designed to cap fibrils of tau, known to form the neurofibrillary tangles of AD, thereby preventing fibril elongation...
October 10, 2023: Proceedings of the National Academy of Sciences of the United States of America
#25
JOURNAL ARTICLE
Diego L Lorca-Puls, Andrea Gajardo-Vidal, Maria Luisa Mandelli, Ignacio Illán-Gala, Zoe Ezzes, Lisa D Wauters, Giovanni Battistella, Rian Bogley, Buddhika Ratnasiri, Abigail E Licata, Petronilla Battista, Adolfo M García, Boon Lead Tee, Sladjana Lukic, Adam L Boxer, Howard J Rosen, William W Seeley, Lea T Grinberg, Salvatore Spina, Bruce L Miller, Zachary A Miller, Maya L Henry, Nina F Dronkers, Maria Luisa Gorno-Tempini
The non-fluent/agrammatic variant of primary progressive aphasia (nfvPPA) is a neurodegenerative syndrome primarily defined by the presence of apraxia of speech (AoS) and/or expressive agrammatism. In addition, many patients exhibit dysarthria and/or receptive agrammatism. This leads to substantial phenotypic variation within the speech-language domain across individuals and time, in terms of both the specific combination of symptoms as well as their severity. How to resolve such phenotypic heterogeneity in nfvPPA is a matter of debate...
February 1, 2024: Brain
#26
JOURNAL ARTICLE
Tiffany E Chow, Christina R Veziris, Nidhi Mundada, Alexis I Martinez-Arroyo, Joel H Kramer, Bruce L Miller, Howard J Rosen, Maria Luisa Gorno-Tempini, Katherine P Rankin, William W Seeley, Gil D Rabinovici, Renaud La Joie, Virginia E Sturm
BACKGROUND: In Alzheimer's disease (AD), the gradual accumulation of amyloid-β (Aβ) and tau proteins may underlie alterations in empathy. OBJECTIVE: To assess whether tau aggregation in the medial temporal lobes relates to differences in cognitive empathy (the ability to take others' perspectives) and emotional empathy (the ability to experience others' feelings) in AD. METHODS: Older adults (n = 105) completed molecular Aβ positron emission tomography (PET) scans...
September 22, 2023: Journal of Alzheimer's Disease: JAD
#27
JOURNAL ARTICLE
Reshma Bhagat, Miguel A Minaya, Arun Renganathan, Muneshwar Mehra, Jacob Marsh, Rita Martinez, Abdallah M Eteleeb, Alissa L Nana, Salvatore Spina, William W Seeley, Lea T Grinberg, Celeste M Karch
Tauopathies are a heterogenous group of neurodegenerative disorders characterized by tau aggregation in the brain. In a subset of tauopathies, rare mutations in the MAPT gene, which encodes the tau protein, are sufficient to cause disease; however, the events downstream of MAPT mutations are poorly understood. Here, we investigate the role of long non-coding RNAs (lncRNAs), transcripts >200 nucleotides with low/no coding potential that regulate transcription and translation, and their role in tauopathy. Using stem cell derived neurons from patients carrying a MAPT p...
September 21, 2023: Molecular Psychiatry
#28
JOURNAL ARTICLE
Lawren VandeVrede, Renaud La Joie, Sheena Horiki, Nidhi S Mundada, Mary Koestler, Ji-Hye Hwang, Peter A Ljubenkov, Julio C Rojas, Gil D Rabinovici, Adam L Boxer, William W Seeley
No abstract text is available yet for this article.
September 19, 2023: Acta Neuropathologica
#29
JOURNAL ARTICLE
Kristina Camp, Michael F Coleman, Tori McFarlane, Steven S Doerstling, Subreen A Khatib, Erika T Rezeli, Alfor G Lewis, Alexander J Pfeil, Laura A Smith, Laura W Bowers, Farnaz Fouladi, Weida Gong, Elaine M Glenny, Joel S Parker, Ginger L Milne, Ian M Carroll, Anthony A Fodor, Randy J Seeley, Stephen D Hursting
Obesity promotes triple-negative breast cancer (TNBC), and effective interventions are urgently needed to break the obesity-TNBC link. Epidemiologic studies indicate that bariatric surgery reduces TNBC risk, while evidence is limited or conflicted for weight loss via low-fat diet (LFD) or calorie restriction (CR). Using a murine model of obesity-driven TNBC, we compared the antitumor effects of vertical sleeve gastrectomy (VSG) with LFD, chronic CR, and intermittent CR. Each intervention generated weight and fat loss and suppressed tumor growth relative to obese mice (greatest suppression with CR)...
September 12, 2023: JCI Insight
#30
REVIEW
Jacob W Vogel, Nick Corriveau-Lecavalier, Nicolai Franzmeier, Joana B Pereira, Jesse A Brown, Anne Maass, Hugo Botha, William W Seeley, Dani S Bassett, David T Jones, Michael Ewers
Neurodegenerative diseases are the most common cause of dementia. Although their underlying molecular pathologies have been identified, there is substantial heterogeneity in the patterns of progressive brain alterations across and within these diseases. Recent advances in neuroimaging methods have revealed that pathological proteins accumulate along specific macroscale brain networks, implicating the network architecture of the brain in the system-level pathophysiology of neurodegenerative diseases. However, the extent to which 'network-based neurodegeneration' applies across the wide range of neurodegenerative disorders remains unclear...
October 2023: Nature Reviews. Neuroscience
#31
REVIEW
Murray Grossman, William W Seeley, Adam L Boxer, Argye E Hillis, David S Knopman, Peter A Ljubenov, Bruce Miller, Olivier Piguet, Rosa Rademakers, Jennifer L Whitwell, Henrik Zetterberg, John C van Swieten
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset dementia and presents with early social-emotional-behavioural and/or language changes that can be accompanied by a pyramidal or extrapyramidal motor disorder. About 20-25% of individuals with FTLD are estimated to carry a mutation associated with a specific FTLD pathology. The discovery of these mutations has led to important advances in potentially disease-modifying treatments that aim to slow progression or delay disease onset and has improved understanding of brain functioning...
August 10, 2023: Nature Reviews. Disease Primers
#32
JOURNAL ARTICLE
D Luke Fischer, William W Seeley
Recognizing multiple neuropathological entities in people with dementia improves understanding of diagnosis, prognosis, and expected outcomes from therapies. Care for the individual with dementia includes the evaluation and management of diseases associated with the aged brain, most commonly neurodegeneration and vascular brain injury (VBI). Terminology has evolved to keep pace with diagnostic, prognostic, and therapeutic advances, and autopsy studies have shown that multiple comorbid neuropathological entities are the rule, not the exception, especially in older individuals...
July 2023: Practical Neurology
#33
JOURNAL ARTICLE
Andrzej Sokołowski, Ashlin R K Roy, Sheng-Yang M Goh, Emily G Hardy, Samir Datta, Yann Cobigo, Jesse A Brown, Salvatore Spina, Lea Grinberg, Joel Kramer, Katherine P Rankin, William W Seeley, Virginia E Sturm, Howard J Rosen, Bruce L Miller, David C Perry
Behavioral variant frontotemporal dementia is characterized by heterogeneous frontal, insular, and anterior temporal atrophy patterns that vary along left-right and dorso-ventral axes. Little is known about how these structural imbalances impact clinical symptomatology. The goal of this study was to assess the frequency of frontotemporal asymmetry (right- or left-lateralization) and dorsality (ventral or dorsal predominance of atrophy) and to investigate their clinical correlates. Neuropsychiatric symptoms and structural images were analyzed for 250 patients with behavioral variant frontotemporal dementia...
July 20, 2023: Human Brain Mapping
#34
JOURNAL ARTICLE
Daniel W Sirkis, Caroline Warly Solsberg, Taylor P Johnson, Luke W Bonham, Virginia E Sturm, Suzee E Lee, Katherine P Rankin, Howard J Rosen, Adam L Boxer, William W Seeley, Bruce L Miller, Ethan G Geier, Jennifer S Yokoyama
BACKGROUND: Emerging evidence from mouse models is beginning to elucidate the brain's immune response to tau pathology, but little is known about the nature of this response in humans. In addition, it remains unclear to what extent tau pathology and the local inflammatory response within the brain influence the broader immune system. METHODS: To address these questions, we performed single-cell RNA sequencing (scRNA-seq) of peripheral blood mononuclear cells (PBMCs) from carriers of pathogenic variants in MAPT, the gene encoding tau (n = 8), and healthy non-carrier controls (n = 8)...
July 18, 2023: Genome Medicine
#35
Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L Hamilton-Nelson, Nicholas R Wheeler, Yi Zhao, John J Farrell, Michelle A Grunin, Yuk Yee Leung, Pavel P Kuksa, Donghe Li, Eder Lucio da Fonseca, Jesse B Mez, Ellen L Palmer, Jagan Pillai, Richard M Sherva, Yeunjoo E Song, Xiaoling Zhang, Taha Iqbal, Omkar Pathak, Otto Valladares, Amanda B Kuzma, Erin Abner, Perrie M Adams, Alyssa Aguirre, Marilyn S Albert, Roger L Albin, Mariet Allen, Lisa Alvarez, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Gayle Ayres, Clinton T Baldwin, Robert C Barber, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, Bruno A Benitez, David Bennett, John Bertelson, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James Brewer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Christopher S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A Chin, Helena C Chui, Jaeyoon Chung, Suzanne Craft, Paul K Crane, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Michael L Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L De Jager, Charles DeCarli, John DeToledo, Malcolm Dick, Dennis W Dickson, Beth A Dombroski, Rachelle S Doody, Ranjan Duara, NIlüfer Ertekin-Taner, Denis A Evans, Kelley M Faber, Thomas J Fairchild, Kenneth B Fallon, David W Fardo, Martin R Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Tatiana M Foroud, Matthew P Frosch, Brian Fulton-Howard, Douglas R Galasko, Adriana Gamboa, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Alison M Goate, Thomas J Grabowski, Neill R Graff-Radford, Robert C Green, John H Growdon, Hakon Hakonarson, James Hall, Ronald L Hamilton, Oscar Harari, John Hardy, Lindy E Harrell, Elizabeth Head, Victor W Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S Honig, Ryan M Huebinger, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Linda S Hynan, Laura Ibanez, Gail P Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M Ilyas Kamboh, Anna M Karydas, Mindy J Katz, John S Kauwe, Jeffrey A Kaye, C Dirk Keene, Aisha Khaleeq, Ronald Kim, Janice Knebl, Neil W Kowall, Joel H Kramer, Walter A Kukull, Frank M LaFerla, James J Lah, Eric B Larson, Alan Lerner, James B Leverenz, Allan I Levey, Andrew P Lieberman, Richard B Lipton, Mark Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Douglas Mains, Flanagan E Margaret, Daniel C Marson, Eden R R Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Stefan McDonough, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, Edwin S Monuki, John C Morris, Shubhabrata Mukherjee, Amanda J Myers, Trung Nguyen, Sid O'Bryant, John M Olichney, Marcia Ory, Raymond Palmer, Joseph E Parisi, Henry L Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C Petersen, Aimee Pierce, Marsha Polk, Wayne W Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Joan S Reisch, John M Ringman, Erik D Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Donald R Royall, Mark A Sager, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Susan H Slifer, Scott Small, Amanda G Smith, Janet P Smith, Joshua A Sonnen, Salvatore Spina, Peter St George-Hyslop, Robert A Stern, Alan B Stevens, Stephen M Strittmatter, David Sultzer, Russell H Swerdlow, Rudolph E Tanzi, Jeffrey L Tilson, John Q Trojanowski, Juan C Troncoso, Debby W Tsuang, Vivianna M Van Deerlin, Linda J van Eldik, Jeffery M Vance, Badri N Vardarajan, Robert Vassar, Harry V Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Patrice L Whitehead, Ellen M Wijsman, Kirk C Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S Wingo, Thomas Wisniewski, Randall L Woltjer, Martin Woon, Clinton B Wright, Chuang-Kuo Wu, Steven G Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W Kunkle, William S Bush, Li-San Wang, Lindsay A Farrer, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Gyungah R Jun, Christiane Reitz, Adam C Naj
Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in non-European ancestry groups in genome-wide association studies (GWAS). We constructed and analyzed a multi-ancestry GWAS dataset in the Alzheimer's Disease (AD) Genetics Consortium (ADGC) to test for novel shared and ancestry-specific AD susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6,728 African American, 8,899 Hispanic (HIS), and 3,232 East Asian individuals, performing within-ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis...
July 8, 2023: medRxiv
#36
JOURNAL ARTICLE
Liwen Zhang, Taru M Flagan, Suvi Häkkinen, Stephanie A Chu, Jesse A Brown, Alex J Lee, Lorenzo Pasquini, Maria Luisa Mandelli, Maria Luisa Gorno-Tempini, Virginia E Sturm, Jennifer S Yokoyama, Brian S Appleby, Yann Cobigo, Bradford C Dickerson, Kimiko Domoto-Reilly, Daniel H Geschwind, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Ging-Yuek Robin Hsiung, Edward D Huey, Kejal Kantarci, Argentina Lario Lago, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Chiadi U Onyike, Eliana Marisa Ramos, Erik D Roberson, Maria Carmela Tartaglia, Arthur W Toga, Sandra Weintraub, Zbigniew K Wszolek, Leah K Forsberg, Hilary W Heuer, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Bruce L Miller, William W Seeley, Suzee E Lee
OBJECTIVE: Microtubule-associated protein tau (MAPT) mutations cause frontotemporal lobar degeneration, and novel biomarkers are urgently needed for early disease detection. We used task-free functional magnetic resonance imaging (fMRI) mapping, a promising biomarker, to analyze network connectivity in symptomatic and presymptomatic MAPT mutation carriers. METHODS: We compared cross-sectional fMRI data between 17 symptomatic and 39 presymptomatic carriers and 81 controls with (1) seed-based analyses to examine connectivity within networks associated with the 4 most common MAPT-associated clinical syndromes (ie, salience, corticobasal syndrome, progressive supranuclear palsy syndrome, and default mode networks) and (2) whole-brain connectivity analyses...
October 2023: Annals of Neurology
#37
Grant Kauwe, Kristeen A Pareja-Navarro, Lei Yao, Jackson H Chen, Ivy Wong, Rowan Saloner, Helen Cifuentes, Alissa L Nana, Samah Shah, Yaqiao Li, David Le, Salvatore Spina, Lea T Grinberg, William W Seeley, Joel H Kramer, Todd C Sacktor, Birgit Schilling, Li Gan, Kaitlin B Casaletto, Tara E Tracy
Synaptic plasticity is obstructed by pathogenic tau in the brain, representing a key mechanism that underlies memory loss in Alzheimer's disease (AD) and related tauopathies. Here, we define a mechanism for plasticity repair in vulnerable neurons using the C-terminus of the KIdney/BRAin (KIBRA) protein (CT-KIBRA). We show that CT-KIBRA restores plasticity and memory in transgenic mice expressing pathogenic human tau; however, CT-KIBRA did not alter tau levels or prevent tau-induced synapse loss. Instead, we find that CT-KIBRA binds to and stabilizes protein kinase Mζ (PKMζ) to maintain synaptic plasticity and memory despite tau mediated pathogenesis...
June 12, 2023: bioRxiv
#38
JOURNAL ARTICLE
Anil J Trindade, Robert J Lentz, Whitney D Gannon, Otis B Rickman, Samira Shojaee, Katherine Vandervest, Gary Schwartz, Gloria W Li, Anupam Kumar, Puneet S Garcha, Eric J Seeley, Yaron B Gesthalter, Stephanie Mueller, John P Egan, Andrew J DeMaio, Lonny B Yarmus, Enambir S Josan, Jasleen K Pannu, Max T Wayne, Jose L DeCardenas, Matthew D Bacchetta, Fabien Maldonado
INTRODUCTION: The safety and efficacy of indwelling pleural catheters (IPCs) in lung allograft recipients is under-reported. METHODS: We performed a multicenter, retrospective analysis between 1/1/2010 and 6/1/2022 of consecutive IPCs placed in lung transplant recipients. Outcomes included incidence of infectious and non-infectious complications and rate of auto-pleurodesis. RESULTS: Seventy-one IPCs placed in 61 lung transplant patients at eight centers were included...
June 24, 2023: Clinical Transplantation
#39
JOURNAL ARTICLE
Samuel Klein, Randy J Seeley
No abstract text is available yet for this article.
June 19, 2023: Nature metabolism
#40
JOURNAL ARTICLE
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation of proteins by 26 S proteasomes. Here, we identified 15 de novo missense variants in the PSMC3 gene encoding the AAA-ATPase proteasome subunit PSMC3/Rpt5 in 23 unrelated heterozygous patients with an autosomal dominant form of neurodevelopmental delay and intellectual disability...
May 31, 2023: Science Translational Medicine
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