Results 11 to 20 of about 30,315 (187)

Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality

Neural Regeneration Research, 2023
Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead
Yulia Mitiagin, Ari Barzilai
doaj   +1 more source

Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia

Annals of Indian Academy of Neurology, 2022
Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent ...
Anshita Arora, Shruti Bajaj, Nishant Rathod, Anaita U Hegde   +3 more
doaj   +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

Ataxia-Telangiectasia Familiar: Un reporte de casos

Revista de la Facultad de Medicina, 2023
Ataxia Telangiectasia (A-T) es una enfermedad autosómica recesiva (OMIM #208900) con afección neurológica severa, como primer síntoma típico siendo la ataxia cerebelosa.
Anna Yurrita, Marcela Elizabeth Orozco Orozco , Julio Rafael Cabrera Valverde, María Antonieta Sandoval Vargas   +3 more
doaj   +1 more source

Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations

Stem Cell Research, 2021
Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this ...
Hannah C. Leeson, Zoe Hunter, Harman Kaur Chaggar, Martin F. Lavin, Alan Mackay-Sim, Ernst J. Wolvetang   +5 more
doaj   +1 more source

c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Hepatology, EarlyView., 2022
In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie, Jill E. Hunter, Amy Collins, Amelia Rushton, Lauren G. Russell, Erik Ramon‐Gil, Maja Laszczewska, Misti McCain, Marco Y. W. Zaki, Amber Knox, Yixin Seow, Laura Sabater, Daniel Geh, Neil D. Perkins, Helen L. Reeves, Dina Tiniakos, Derek A. Mann, Fiona Oakley   +17 more
wiley   +1 more source

It takes three to the DNA damage response tango

Molecular & Cellular Oncology, 2021
The DNA damage response is robustly activated by DNA double-strand breaks and controlled by three apical protein kinases of the PI3-kinase-related protein kinase (PIKK) family: ataxia-telangiectasia, mutated (ATM), ataxia-telangiectasia and Rad3-related (
Sapir Schlam-Babayov, Yael Ziv, Yosef Shiloh   +2 more
doaj   +1 more source

Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants

Haematologica, 2015
Inactivation of the Ataxia Telangiectasia Mutated gene in chronic lymphocytic leukemia results in resistance to p53-dependent apoptosis and inferior responses to treatment with DNA damaging agents. Hence, p53-independent strategies are required to target
Angelo Agathanggelou, Victoria J. Weston, Tracey Perry, Nicholas J. Davies, Anna Skowronska, Daniel T. Payne, John S. Fossey, Ceri E. Oldreive, Wenbin Wei, Guy Pratt, Helen Parry, David Oscier, Steve J. Coles, Paul S. Hole, Richard L. Darley, Michael McMahon, John D. Hayes, Paul Moss, Grant S. Stewart, A. Malcolm R. Taylor, Tatjana Stankovic   +20 more
doaj   +1 more source

Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

World Journal of Surgical Oncology, 2009
Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer.
Hammond Sue, Erdman Steven H, Abdessalam Shahab F, Otabor Iyore A, Besner Gail E   +4 more
doaj   +1 more source

Infections in Ataxia-Telangiectasia

Pediatric Neurology Briefs, 2004
Immunodeficiency and infections were determined in 100 consecutive patients with ataxia-telangiectasia (A-T) seen at the Johns Hopkins Ataxia-Telangiectasia Clinical Center.
J Gordon Millichap
doaj   +1 more source