Results 21 to 30 of about 115,141 (275)

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

Movement Disorders, 2021
Treatment of animal models with ataxia telangiectasia (A‐T) with nicotinamide riboside (NR) improved their neurological outcome and survival.
Stefanie J G Veenhuis, N. V. van Os, A. Janssen, M. van Gerven, K. Coene, U. Engelke, R. Wevers, G. Tinnevelt, R. ter Heine, Bart P. C. van de Warrenburg, C. Weemaes, N. Roeleveld, M. Willemsen   +12 more
semanticscholar   +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

First-in-Human Trial of the Oral Ataxia Telangiectasia and Rad3-Related Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors.

Cancer Discovery, 2020
Targeting the ataxia telangiectasia and Rad3-related (ATR) enzyme represents a promising anticancer strategy for tumors with DNA damage response (DDR) defects and replication stress, including inactivation of ataxia telangiectasia mutated (ATM) signaling.
T. Yap, D. Tan, Angelika Terbuch, Reece Caldwell, Christina Guo, B. Goh, V. Heong, N. Haris, S. Bashir, Y. Drew, D. Hong, F. Meric-Bernstam, G. Wilkinson, J. Hreiki, A. Wengner, F. Bladt, A. Schlicker, Matthias Ludwig, Yinghui Zhou, Li Liu, Sonal Bordia, Ruth Plummer, E. Lagkadinou, J. D. de Bono   +23 more
semanticscholar   +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

Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses. [PDF]

Cureus
Bebana A, Ghanam A, Tkak H, Elouali A, Babakhouya A, Rkain M.   +5 more
europepmc   +3 more sources

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

Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders

Movement Disorders Clinical Practice, 2020
Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes
Ivana Rocha Raslan, Paula Camila Alves Pereira Matos, Vinícius Boaratti Ciarlariello, Karyme Hussein Daghastanli, Augusto Bragança Reis Rosa, Juliana Harumi Arita, C. Aranda, O. Barsottini, J. Pedroso   +8 more
semanticscholar   +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