Results 51 to 60 of about 46,967 (195)

Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia. [PDF]

, 2022
BACKGROUND There is no authorized treatment for ataxia telangiectasia (AT). As cerebellar symptoms of storage diseases were improved by acetyl-DL-leucine (ADLL), the authors hypothesized a symptomatic and disease-modifying effect in AT upon ...
Kerkeni, Hassen, Goeldlin, Martina, Brueggemann, Adriana, Mohaupt, Markus, Bicvic, Antonela, Abegg, Mathias, Kalla, Roger, Kolníková, Miriam, Mantokoudis, Georgios, Bremova-Ertl, Tatiana   +9 more
core   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Ataxia telangiectasia

, 2023
We report a rare case of a seven- years- old boy from Kosti who presented with progressive ataxia sincethe age of three. Two years later he developed conjunctival telangiectasia .Examination revealed occulomotorapraxia.
Mukhtar, Sanaa Khalid, Ali, Mohamed Widatalla   +1 more
core  

Ataxia telangiectasia (A-T) [PDF]

, 2017
Review on Ataxia telangiectasia, with data on clinics, and the gene ...
Shiloh, Yossi
core   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

Acta Pediátrica de México, 2015
Antecedentes: la ataxia-telangiectasia es una enfermedad hereditaria con patrón de herencia autosómico recesivo. Se caracteriza por deterioro neurológico, telangiectasias e inmunodeficiencia.
Eduardo Augusto Gálvez-Cuitiva, Cecilia Ridaura-Sanz, Marco Antonio Yamazaki-Nakashimada, Carlos Leal-Leal, Marta Zapata-Tarrés   +4 more
doaj   +1 more source

Ataxia Telangiectasia: A Case Report

, 2017
Ataxia telangiectasia (AT) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and occulo-cutaneous telangiectasia.
SC Mojumder, Mohammad Sayeed Hassan, Ferdous Ara, Sheikh Farjana Sonia, Abdullah Yusuf   +4 more
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia

Nature Communications
Ataxia-telangiectasia is a rare genetic disorder characterized by neurological defects, immunodeficiency, cancer predisposition, radiosensitivity, decreased blood vessel integrity, and diabetes. ATM, the protein mutated in Ataxia-telangiectasia, responds
July Carolina Romero, Sonal S. Tonapi, Manish Parihar, Eva Loranc, Henry E. Miller, Liesl A. Lawrence, Nicklas Bassani, Daniel G. Robledo, Lin Cao, Jia Nie, Kairi Kanda, Aiola Stoja, Natalia Garcia, Aparna Gorthi, Brian J. Stoveken, Teresa W-M Fan, Teresa A. Cassel, Shan Zha, James D. Lechleiter, Nicolas Musi, Lily Q. Dong, Andrew N. Lane, Alexander J. R. Bishop   +22 more
doaj   +1 more source