Results 81 to 90 of about 8,444 (178)

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

Acta Neuropathologica Communications, 2017
An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates and
Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs   +9 more
doaj   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source

From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy

Neurobiology of Disease
Short tandem repeat expansions in C9orf72, DMPK, and CNBP genes cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) and myotonic dystrophy types 1 and 2 (DM1/DM2), respectively.
Claudia Alberti, Valeria Parente, Stefania Corti, Valeria Ada Sansone   +3 more
doaj   +1 more source

Covalent drug discovery: Progress against key targets, emerging strategies and lessons learnt

British Journal of Pharmacology, EarlyView.
Abstract Covalent drug discovery is currently experiencing a boom in industrial and academic interest. To date, at least 75 covalent drugs have received regulatory approval, targeting both traditional target classes and more challenging proteins for which other approaches failed. In many cases, unique aspects of covalent targeting are essential for the
Charles P. Brown, Alan Armstrong, David J. Mann   +2 more
wiley   +1 more source

Humoral response to neurofilaments and dipeptide repeats in ALS progression

Annals of Clinical and Translational Neurology, 2021
Objective To appraise the utility as biomarkers of blood antibodies and immune complexes to neurofilaments and dipeptide repeat proteins, the products of translation of the most common genetic mutation in amyotrophic lateral sclerosis (ALS).
Fabiola Puentes, Vittoria Lombardi, Ching‐Hua Lu, Ozlem Yildiz, Pietro Fratta, Adrian Isaacs, Yoana Bobeva, Joanne Wuu, ALS Biomarker Consortium, CReATe Consortium, Michael Benatar, Andrea Malaspina   +11 more
doaj   +1 more source

The effect of a serum containing acetyl hexapeptide‐8, dipeptide diaminobutyroyl benzylamide diacetate and gluconolactone on skin biomarkers, wrinkles and skin texture: Ex vivo and clinical studies

International Journal of Cosmetic Science, EarlyView.
The novel serum demonstrates significant anti‐skin aging effects, effectively improving static and dynamic wrinkles and skin texture. Therefore, this formulation holds promise as a safe and effective product in the field of anti‐wrinkle skincare products.
Mingjie Zhu, Xiaofeng He, Zailing Zhu, Stephen Lynch, Hequn Wang, Xiaoyin Zhou, Yidong Tu, Andrew Steel, Kung Chi Hsu, Yueqing Niu, Anna Cho, Mutsue Hashimoto, Xi Yan, Maggie Su, Wenna Wang   +14 more
wiley   +1 more source

Translation of dipeptide repeat proteins in ALS/FTD through unique and redundant AUG initiation codons

, 2023
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) proteins, produced from both
Lee, Soojin, Krishnan, Gopinath, Kwon, Deborah Y, Gu, Yuanzheng, Kratsios, Paschalis, Roos, Raymond P, Sonobe, Yoshifumi, Gao, Fen-Biao   +7 more
core   +1 more source

RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD

Life Science Alliance
Enhancing RuvBL1, but particularly RuvBL2 expression, reduces toxic dipeptide repeat proteins in vitro and in vivo models of C9orf72-linked ALS/FTD, suggesting that modulating RuvBL1/2 levels could be a promising therapeutic approach for C9ALS/FTD.
Christopher P Webster, Bradley Hall, Olivia M Crossley, Dana Dauletalina, Marianne King, Ya-Hui Lin, Lydia M Castelli, Zih-Liang Yang, Ian Coldicott, Ergita Kyrgiou-Balli, Adrian Higginbottom, Laura Ferraiuolo, Kurt J De Vos, Guillaume M Hautbergue, Pamela J Shaw, Ryan JH West, Mimoun Azzouz   +16 more
doaj   +1 more source

Protective effects of extracellular vesicle‐like nanoparticles derived from Cannabis sativa adventitious roots against UVB‐induced damage in human keratinocytes

International Journal of Cosmetic Science, EarlyView.
Cannabis sativa root‐derived extracellular vesicle‐like nanoparticles (CA‐NPs) were isolated from adventitious root cultures and subjected to physicochemical characterization. Upon UVB exposure, keratinocytes exhibited increased ROS generation, apoptosis and MAPK activation, leading to oxidative stress and skin damage.
Dong Ho Bak, Su Hyun Park, Young Bae Ryu, Cha Young Kim, Jae Cheol Jeong, Woo Sik Kim   +5 more
wiley   +1 more source

Single-molecule imaging reveals distinct elongation and frameshifting dynamics between frames of expanded RNA repeats in C9ORF72-ALS/FTD

Nature Communications, 2023
C9ORF72 hexanucleotide repeat expansion is the most common genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic mechanism is the accumulation of toxic dipeptide repeat (DPR) proteins like poly-GA, GP
Malgorzata J. Latallo, Shaopeng Wang, Daoyuan Dong, Blake Nelson, Nathan M. Livingston, Rong Wu, Ning Zhao, Timothy J. Stasevich, Michael C. Bassik, Shuying Sun, Bin Wu   +10 more
doaj   +1 more source