Base by Base

Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Episoder(463)

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

Ali T et al., JCI Insight - Um antirretroviral aprovado para HIV, dado por via oral em microdose, prolongou a sobrevida de camundongos que carregam a proteína priônica humana e foram infectados com pr...

2 Sep 17min

453: Efavirenz slows sCJD progression by reshaping brain cholesterol

453: Efavirenz slows sCJD progression by reshaping brain cholesterol

Ali T et al., JCI Insight - Repurposed low-dose efavirenz slowed disease progression and extended survival in tg650 mice inoculated with MM1 sCJD prions by activating CYP46A1, raising 24S‑hydroxychole...

31 Aug 20min

452: Reduzir a PrP funciona em todas as linhagens [PT]

452: Reduzir a PrP funciona em todas as linhagens [PT]

Minikel EV et al., Nucleic Acids Research - Este estudo testa a redução da proteína priônica (PrP) por oligonucleotídeos antisense (ASOs) em camundongos, variando doses, esquemas de aplicação, linhage...

28 Aug 28min

451: Prion protein lowering is disease-modifying across stages and strains

451: Prion protein lowering is disease-modifying across stages and strains

Minikel EV et al., Nucleic Acids Research - This study uses antisense oligonucleotides (ASOs) to lower prion protein (PrP) RNA in mice and shows dose-dependent extension of survival, efficacy across m...

25 Aug 24min

450: ASOs que reduzem PrP prolongam a sobrevida [PT]

450: ASOs que reduzem PrP prolongam a sobrevida [PT]

Raymond GJ et al., JCI Insight - This episode covers a 2019 study showing that sequence-specific antisense oligonucleotides (ASOs) targeting the prion protein (PrP) mRNA, delivered by bolus intracereb...

24 Aug 24min

449: siRNA divalente para doença priônica [PT]

449: siRNA divalente para doença priônica [PT]

Gentile JE et al., Nucleic Acids Research - Discovery and preclinical development of divalent siRNA candidates targeting PRNP, identifying 2439-s4 as a potent, durable human PRNP-lowering drug candida...

24 Aug 28min

448: PrP‑lowering ASOs prolong survival in prion‑infected mice

448: PrP‑lowering ASOs prolong survival in prion‑infected mice

Raymond GJ et al., JCI Insight - This study tests antisense oligonucleotides (ASOs) targeting Prnp in wild‑type mice infected with RML prions and shows that sequence‑specific PrP lowering by bolus i.c...

23 Aug 25min

447: Divalent siRNA for prion disease

447: Divalent siRNA for prion disease

Gentile JE et al., Nucleic Acids Research - This study develops and tests divalent siRNA molecules that lower prion protein (PrP) in the brain, identifies a potent human-targeting candidate (2439-s4),...

23 Aug 23min

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