Results 31 to 40 of about 11,829 (290)

Ataxias

, 2017
Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system ...
Vikram G. Shakkottai
core   +1 more source

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]

Journal of Integrative Neuroscience, 2020
Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
doaj   +1 more source

Guidelines on the diagnosis and management of the progressive ataxias [PDF]

, 2019
The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs).
Bonney, H, Vallortigara, J, de, Silva R, Julie Greenfield, Hunt, B, Barry Hunt, Greenfield, J, Julie Vallortigara, de Silva, R, Arron Cook, Harriet Bonney, Giunti, P, Rajith de Silva, Cook, A, Paola Giunti   +14 more
core   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Ataxias adquiridas: clasificación y enfoque diagnóstico

, 2022
[[EN] Acquired ataxias are a group of heterogeneous diseases that includes those with autoimmune (paraneoplastic and non-paraneoplastic), toxic, infectious, vitamin deficiency, tumor and vascular origin.
Adarmes-Gómez, Astrid
core   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies

Frontiers in Neurology
Neurological disorders pose a rapidly growing global health burden, significantly affecting cognitive and motor functions with profound societal repercussions.
Umar Saeed, Umar Saeed, Zahra Zahid Piracha, Zahra Zahid Piracha, Zahra Zahid Piracha, Muhammad Nouman Tariq, Shayan Syed, Maria Rauf, Laiba Razaq, Muhammad Kaleem Iftikhar, Amna Maqsood, Syed Muhammad Ahsan   +11 more
doaj   +1 more source

Polimorfismo -308G>A del gen codificante del factor de necrosis tumoral alfa, periodontitis y síndrome coronario agudo

Correo Científico Médico, 2023
Introducción: La periodontitis y las enfermedades cardiovasculares de origen isquémico se han convertido en un serio problema para la salud pública a nivel mundial. Estas enfermedades tienen etiología multifactorial con un importante componente genético.
Maricelys Leonor Martínez Pérez, Luis Enrique Almaguer Mederos, Jacqueline Medrano Montero   +2 more
doaj  

Spinocerebellar Ataxias

, 2021
Dr.
Andrew G. Lee, MD; Nicole Weber
core