Results 91 to 100 of about 9,658 (171)

Image_2_New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.JPEG [PDF]

, 2018
Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene.
François Becher (5690273), Vincent Anquetil (3446792), Agnès Camuzat (3446789), Clémence Fournier (5690258), Fanny Elahi (5690270), Arthur Viodé (5690255), François Fenaille (5690261), Isabelle Le Ber (487367), Foudil Lamari (837918), NeuroCEB Brain Bank (5690264), Morwena Latouche (5690267), Christophe Junot (1392646)   +11 more
core   +1 more source

Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
ABSTRACT Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal neurodegenerative disease primarily affecting motor neurons. Two key protein inclusions found in lower motor neurons serve as neuropathological hallmarks of the disease in human tissue: the TDP43‐positive inclusion and the cystatin C‐positive Bunina body.
Sarah M. Granger, Rosemary A. Staniforth, Asbjorg Osk Snorradottir, Johnathan Cooper‐Knock, Kurt J. De Vos, J. Robin Highley   +5 more
wiley   +1 more source

Translating ribosome affinity purification from C9orf72-associated amyotrophic lateral sclerosis patient-derived iPSC motor neurons [PDF]

, 2020
The C9orf72 hexanucleotide repeat expansion [GGGGCC]n is the most common cause of familial amyotrophic lateral sclerosis. The endogenous role of the C9orf72 protein has not been fully characterised, nor how the presence of the repeat expansion affects ...
Sathyaprakash, Chaitra
core   +2 more sources

Frontotemporal Lobar Degeneration‐TDP Type C With Striatal Glial Cytoplasmic Inclusions and Motor Neuron Degeneration

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
We report an autopsy case of frontotemporal lobar degeneration (FTLD)‐TDP type C with severe striatal involvement and annexin A11‐ and phosphorylated TDP‐43‐positive glial cytoplasmic inclusions. The patient developed progressive asymmetric rigidity accompanied by marked striatal atrophy and showed both upper and lower motor neuron involvement.
Akiko Uchino, Kazutomi Kanemaru, Airi Tarutani, Masato Hasegawa, Hiroya Naruse, Hiroyuki Ishiura, Shigeo Murayama, Yuko Saito   +7 more
wiley   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia [PDF]

, 2020
In 2011, a hexanucleotide repeat expansion (HRE) in the noncoding region of C9orf72 was associated with the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The main pathogenic mechanisms in C9-ALS/FTD
Michela Taiana, Bresolin, Nereo, Luca Andreoli, Gagliardi, Delia, Taiana, Michela, Bersani, Margherita, Nereo Bresolin, Stefania Corti, Gianluca Costamagna, Comi, Giacomo Pietro, Delia Gagliardi, Corti, Stefania, Andreoli, Luca, Giacomo Pietro Comi, Biella, Fabio, Margherita Bersani, Fabio Biella, Costamagna, Gianluca   +17 more
core   +1 more source

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Acta Neuropathologica Communications, 2018
Loss-of-function mutations in progranulin (GRN) and a non-coding (GGGGCC)n hexanucleotide repeat expansions in C9ORF72 are the two most common genetic causes of frontotemporal lobar degeneration with aggregates of TAR DNA binding protein 43 (FTLD-TDP ...
Alexandra M. Nicholson, Xiaolai Zhou, Ralph B. Perkerson, Tammee M. Parsons, Jeannie Chew, Mieu Brooks, Mariely DeJesus-Hernandez, NiCole A. Finch, Billie J. Matchett, Aishe Kurti, Karen R. Jansen-West, Emilie Perkerson, Lillian Daughrity, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Fenghua Hu, Tania F. Gendron, Melissa E. Murray, Dennis W. Dickson, John D. Fryer, Leonard Petrucelli, Rosa Rademakers   +22 more
doaj   +1 more source

The Chemical Regulatory Landscape of Biomolecular Condensates

Aggregate, Volume 7, Issue 7, July 2026.
Chemical regulation of biomolecular phase separation offers a unique opportunity to bridge molecular‐level chemistry with emergent cellular organization. Chemically informed strategies for controlling condensate condensates through chemically tractable parameters such as interaction valency, solvent quality, and molecular crowding provides a unifying ...
Di Liu, Xin Zhang
wiley   +1 more source

Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesis [PDF]

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurological disorders that share neurodegenerative pathways and features.
Qixu Cai, Yanyan Geng
core   +1 more source

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

Acta Neuropathologica Communications, 2018
A hexanucleotide repeat expansion (HRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (ALS/FTD).
Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw, Tennore M. Ramesh   +7 more
doaj   +1 more source