Results 81 to 90 of about 585,191 (278)

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy [PDF]

Journal of Movement Disorders, 2010
Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades.
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
doaj   +1 more source

STABILITY OF GAA/TTC AND CTG/CAG TRINUCLEOTIDE REPEATS DURING BREAK-INDUCED REPLICATION IN YEAST [PDF]

, 2012
poster abstractSeveral human neurodegenerative disorders are caused by the expansion of trinucleotide repeats within or near the region of genes. To study the sta-bility of trinucleotide repeats in eukaryotic cells, we insert different number of GAA and ...
Chen, Yu-Hsiang, Malkova, Anna
core  

Transcription as a Threat to Genome Integrity [PDF]

, 2016
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés, Gaillard, Hélène   +1 more
core   +1 more source

Allosteric Modulation of Pathological Ataxin‐3 Aggregation: A Path to Spinocerebellar Ataxia Type‐3 Therapies

Advanced Science, EarlyView.
This study uncovers a new allosteric site in the Josephin domain of ataxin‐3 targeted by the molecular tweezer CLR01, which modulates protein aggregation, improves synaptic function in neuronal cells, and delays motor dysfunction in animal models.
Alexandra Silva, Sara Duarte‐Silva, Pedro M. Martins, Beatriz Rodrigues, Débora Serrenho, Daniela Vilasboas‐Campos, Andreia Teixeira‐Castro, Julio Vieyto‐Nuñez, Joel Mieres‐Perez, Francisco Figueiredo, Martyna Podlasiak, Tatiana Van‐der‐Kellen, Joana Fraga, James Noble, Carter Lantz, Niki Sepanj, Daniela Monteiro‐Fernandes, Sara Guerreiro, Andreia Neves‐Carvalho, Joana Pereira‐Sousa, Frank‐Gerrit Klärner, Thomas Schrader, Joseph A. Loo, Annalisa Pastore, Elsa Sanchez‐Garcia, Gal Bitan, Ana Luísa Carvalho, Patrícia Maciel, Sandra Macedo‐Ribeiro   +28 more
wiley   +1 more source

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions

Cells, 2021
Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
doaj   +1 more source

Characterization of Toxoplasma gondii subtelomeric-like regions: identification of a long-range compositional bias that is also associated with gene-poor regions [PDF]

, 2014
Background Chromosome ends are composed of telomeric repeats and subtelomeric regions, which are patchworks of genes interspersed with repeated elements.
Agüero, Fernan Gonzalo, Carmona, Santiago Javier, Dalmasso, Maria Carolina, Ángel, Sergio Oscar   +3 more
core   +2 more sources

Ribosome Homeostasis Regulated by SETD2 Preserves Intestinal Epithelial Barrier

Advanced Science, EarlyView.
SETD2 ablation causes dysregulation and recruitment defects of ribosome biogenesis factors, resulting in translational disorders of barrier maintenance genes, thereby compromising the intestinal barrier. These findings unveil a previously unappreciated role of ribosome biogenesis and translational regulation in preserving the intestinal epithelial ...
Hanyu Rao, Aiting Wang, Yue Xu, Wenxin Feng, Chunxiao Ma, Ziyi Wang, Wei Zhang, Wenqiong Su, Xiuying Xiao, Wei‐Qiang Gao, Xianting Ding, Li Li   +11 more
wiley   +1 more source

Crosstalk between MSH2–MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair

Nature Communications, 2016
The expansion of trinucleotide repeats can have detrimental effects and give rise to a range of human diseases. Here the authors report that the mismatch repair and the base excision repair machinery can operate together to promote expansion during ...
Yanhao Lai, Helen Budworth, Jill M. Beaver, Nelson L. S. Chan, Zunzhen Zhang, Cynthia T. McMurray, Yuan Liu   +6 more
doaj   +1 more source

Genome-wide survey of D/E repeats in human proteins uncovers their instability and aids in identifying their role in the chromatin regulator ATAD2

iScience, 2022
Summary: D/E repeats are stretches of aspartic and/or glutamic acid residues found in over 150 human proteins. We examined genomic stability of D/E repeats and functional characteristics of D/E repeat-containing proteins vis-à-vis the proteins with poly ...
Shalabh Shukla, Pavlo Lazarchuk, Maria N. Pavlova, Julia M. Sidorova   +3 more
doaj   +1 more source

Development of Sequence Tagged Microsatellite Site (STMS) markers in Azalea [PDF]

A genomic library was constructed from DNA of two azalea genotypes: a Belgian pot azalea R. simsii hybrid Mevr. Van Belle and a Chinese R. simsii from Daoxian.
Arens, P., Bockstaele, E., van, Dendauw, J., Loose, M., de, Riek, J., de, Vosman, B.   +5 more
core   +2 more sources