Results 81 to 90 of about 364,393 (335)

Enhancer Profiling Reveals a Protective Role of RXRα Against Calcium Oxalate‐Induced Crystal Deposition and Kidney Injury

Advanced Science, EarlyView.
Comprehensive epigenomic and transcriptomic profiling revealed a dynamic enhancer landscape and gene expression program associated with nephrolithiasis, highlighting RXRα as a central transcription factor in this regulatory network. Tubular‐specific deletion of RXRα increased intrarenal CaOx crystal deposition, while its activation with Bexarotene ...
Yu Yang, Xudan Dou, Yongzhan Sun, Mengyao Wang, Jing Wang, Xinyi Cao, Haijie Xie, Linguo Xie, Weiping Tian, Jing Nie, Yupeng Chen, Chunyu Liu, Lirong Zhang   +12 more
wiley   +1 more source

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

Noninvasive Assessment of β‐Secretase Activity Through Click Chemistry‐Mediated Enrichment of Neuronal Extracellular Vesicles to Detect Alzheimer's Disease

Advanced Science, EarlyView.
This study presents the NEV β‐secretase activity assay, a groundbreaking method for noninvasive evaluation of β‐secretase activity in Alzheimer's disease (AD) patients, enabling the generation of individualized β‐secretase activity profiles.
Hyoyong Kim, Junseok Lee, Audrey Qian, You‐Ren Ji, Ryan Zhang, Qixin Hu, Christopher Kazu Williams, Han‐Yu Chuang, Matthew D. Smalley, Yaya Xu, Liang Gao, Mary C. Mayo, Ting Zhang, Edwin M. Posadas, Zaldy S. Tan, Harry V. Vinters, Keith Vossel, Shino Magaki, Yazhen Zhu, Hsian‐Rong Tseng   +19 more
wiley   +1 more source

Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials

Brain : a journal of neurology, 2019
Frontotemporal dementia refers to a group of progressive neurodegenerative syndromes usually caused by the accumulation of pathological tau or TDP-43 proteins.
A. Staffaroni, P. Ljubenkov, J. Kornak, Y. Cobigo, Samir Datta, G. Marx, Samantha M. Walters, Kevin Chiang, Nicholas T Olney, F. Elahi, D. Knopman, B. Dickerson, B. Boeve, M. Gorno-Tempini, S. Spina, L. Grinberg, W. Seeley, B. Miller, J. Kramer, A. Boxer, H. Rosen   +20 more
semanticscholar   +1 more source

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants. [PDF]

, 2019
Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterior cingulate cortices (ACC) is observed in ...
Coppola, Giovanni, Cosme, Celica G, Gan, Li, Gaus, Stephanie E, Geschwind, Daniel H, Grinberg, Lea T, Hepker, Mackenzie, Hwang, Ji-Hye Lee, Lin, Li-Chun, Miller, Bruce L, Nana, Alissa L, Rosen, Howard J, Seeley, William W, Spina, Salvatore   +13 more
core   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Toward a Glutamate Hypothesis of Frontotemporal Dementia

Frontiers in Neuroscience, 2019
Frontotemporal dementia (FTD) is a heterogenous neurodegenerative disorder, characterized by diverse clinical presentations, neuropathological characteristics and underlying genetic causes.
A. Benussi, A. Alberici, E. Buratti, R. Ghidoni, F. Gardoni, M. di Luca, A. Padovani, B. Borroni   +7 more
semanticscholar   +1 more source

Cerebrospinal Fluid Tau, p-Tau 181 and Amyloid-beta(38/40/42) in Frontotemporal Dementias and Primary Progressive Aphasias [PDF]

, 2010
Background/Aims: We determined cerebrospinal fluid (CSF) concentrations of amyloid-beta(A beta)(1-38), A beta(1-40), A beta(1-42), total tau and phospho-tau (p-tau) in order to study their differential expression in frontotemporal dementia (FTD, n = 25 ...
Bibl, Mirko, Esselmann, Hermann, Kornhuber, Johannes, Lewczuk, Piotr, Mollenhauer, Brit, Otto, Markus, Rüther, Eckart, Wiltfang, Jens, Wolf, Stefanie   +8 more
core   +1 more source

The tau isoform 1N4R confers vulnerability of MAPT knockout human iPSC‐derived neurons to amyloid beta and phosphorylated tau‐induced neuronal dysfunction

Alzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION Human tau protein, composed of six brain‐specific isoforms, is a major driver of Alzheimer's disease (AD). The role of its isoforms however remains unclear and human AD models are scarce. METHODS We generated human MAPT– (tau–) knockout (KO) induced pluripotent stem cells (iPSC) using CRISPR/Cas9, differentiated these into ...
Sarah Buchholz, Mohamed Aghyad Al Kabbani, Michael Bell‐Simons, Lena Kluge, Cagla Cagmak, Jennifer Klimek, Natja Haag, Lukas C. Iohan, Audrey Coulon, Marcos R. Costa, Devrim Kilinc, Hans Zempel   +11 more
wiley   +1 more source

TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia

Annals of Neurology, 2019
Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD.
T. Tropea, Jordan Mak, Michael H Guo, S. Xie, Eunran Suh, Jacqueline Rick, A. Siderowf, D. Weintraub, M. Grossman, D. Irwin, D. Wolk, J. Trojanowski, V. V. Van Deerlin, A. Chen-Plotkin   +13 more
semanticscholar   +1 more source