Results 21 to 30 of about 82,738 (226)

STUDY OF MLH3 IN MAINTAINING GENOME STABILITY IN Saccharomyces Cerevisiae [PDF]

, 2022
The mismatch repair system (MMR) is an important pathway for maintaining genome stability because it can remove the errors generated while the cell is replicating. If these errors are left uncorrected, they can lead to genomic mutations.
Vargas Giron, Tirza Tatiana
core  

Minidumbbell: A New Form of Native DNA Structure [PDF]

, 2016
The non-B DNA structures formed by short tandem repeats on the nascent strand during DNA replication have been proposed to be the structural intermediates that lead to repeat expansion mutations.
Sik Lok Lam (8701), Pei Guo (1574110)
core   +1 more source

Mitochondrial Dysfunction in Repeat Expansion Diseases

Antioxidants, 2023
Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described.
Alberto Giménez-Bejarano, Eva Alegre-Cortés, Sokhna M. S. Yakhine-Diop, Patricia Gómez-Suaga, José M. Fuentes   +4 more
doaj   +1 more source

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics [PDF]

GGGGCC repeat expansions in C9orf72 are a common genetic cause of amyotrophic lateral sclerosis in people of European ancestry; however, substantial variability in the penetrance of the mutation, age at disease onset, and clinical presentation can ...
Rademakers, Rosa, Gendron, Tania F, Hautbergue, Guillaume M, Mizielinska, Sarah, Ravits, John, van Blitterswijk, Marka, Hardiman, Orla, Isaacs, Adrian M   +7 more
core   +4 more sources

Tandem repeat disorders: from diagnosis to emerging therapeutic strategies [PDF]

Encephalitis
Tandem repeat disorders (TRDs) are genetic conditions characterized by the abnormal expansion of repetitive DNA sequences within specific genes. The growing number of identified TRDs highlights their complexity, with varied molecular mechanisms ranging ...
Jangsup Moon
doaj   +1 more source

Single-Molecule Sequencing of the C9orf72 Repeat Expansion in Patient iPSCs

Bio-Protocol
A hexanucleotide GGGGCC repeat expansion in the C9orf72 gene is the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). C9orf72 repeat expansions are currently identified with long-range PCR or Southern
Yu- Tsai, Katherine Brown, Mylinh Bernardi, John Harting, Claire Clelland   +4 more
doaj   +1 more source

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Frontiers in Cellular Neuroscience, 2017
The abnormal expansion of unstable simple sequence DNA repeats can cause human disease through a variety of mechanisms, including gene loss-of-function, toxic gain-of-function of the encoded protein and toxicity of the repeat-containing RNA transcript ...
Mário Gomes-Pereira, Mário Gomes-Pereira, Darren G. Monckton   +2 more
doaj   +1 more source

C9orf72-related amyotrophic lateral sclerosis-frontotemporal dementia and links to the DNA damage response: a systematic review

Frontiers in Molecular Neuroscience
The G4C2 repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While healthy individuals have fewer than 30 repeats, affected patients may carry hundreds to thousands.
Seham Almalki, Seham Almalki, Seham Almalki, Seham Almalki, Mohamed Salama, Mohamed Salama, Mohamed Salama, Matthew J. Taylor, Matthew J. Taylor, Matthew J. Taylor, Zubair Ahmed, Zubair Ahmed, Zubair Ahmed, Zubair Ahmed, Richard I. Tuxworth, Richard I. Tuxworth, Richard I. Tuxworth   +16 more
doaj   +1 more source

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich’s Ataxia Cells

Cell Reports, 2016
Friedreich’s ataxia (FRDA) is caused by the expansion of GAA repeats located in the Frataxin (FXN) gene. The GAA repeats continue to expand in FRDA patients, aggravating symptoms and contributing to disease progression.
Jeannine Gerhardt, Angela D. Bhalla, Jill Sergesketter Butler, James W. Puckett, Peter B. Dervan, Zev Rosenwaks, Marek Napierala   +6 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source