Amit Laxmikant Deshmukh
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View article: Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum Open
Brain region-specific degeneration and somatic expansions of the mutant Huntingtin ( mHTT ) CAG tract are key features of Huntington’s disease (HD). However, the relationships among CAG expansions, death of specific cell types and molecula…
View article: Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability Open
View article: Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum
Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum Open
SUMMARY Brain region-specific degeneration and somatic expansions of the mutant Huntingtin (mHTT) CAG tract are key features of Huntington’s disease (HD). However, the relationships between CAG expansions, death of specific cell types, and…
View article: Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases
Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases Open
Tandem CAG repeat expansion mutations cause >15 neurodegenerative diseases, where ongoing expansions in patients’ brains are thought to drive disease onset and progression. Repeat length mutations will involve single-stranded DNAs prone to…
View article: FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability Open
Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant processing of slipped DNAs, may drive Huntington's disease, fragile X syndrome, and autism. FAN1 nuclease modifies hyper-expansion rates by unknown means. W…
View article: FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions
FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions Open
Summary FAN1 nuclease is a modifier of repeat expansion diseases, including Huntington’s disease (HD), fragile X syndrome, and autism. The age of HD onset correlates with ongoing ‘inchworm-like’ repeat expansions (1-3 CAG units/event) in H…
View article: FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders Open
FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis, 15q13.3 microdeletion/microduplication syndrome (autism, schizo…
View article: A Novel Benzocoumarin-Stilbene Hybrid as a DNA ligase I inhibitor with in vitro and in vivo anti-tumor activity in breast cancer models
A Novel Benzocoumarin-Stilbene Hybrid as a DNA ligase I inhibitor with in vitro and in vivo anti-tumor activity in breast cancer models Open
Existing cancer therapies are often associated with drug resistance and toxicity, which results in poor prognosis and recurrence of cancer. This necessitates the identification and development of novel therapeutics against existing as well…