Base by Base

464: Burning fat while sparing muscle on GLP-1 drugs, in mice

Thorne et al., Proceedings of the National Academy of Sciences - GLP-1 receptor agonists such as semaglutide produce large weight loss, but part of what is lost is lean m

463: Why brain traits leave faint, common genetic signals

Zhu et al., Proceedings of the National Academy of Sciences - Genome-wide studies of schizophrenia and other psychiatric disorders find hundreds of hits, yet those hits b

462: A vessel gene tied to AMD dims low-light vision in mice

Cheng et al., Proceedings of the National Academy of Sciences - Genome-wide studies have found dozens of risk loci for age-related macular degeneration, but for many of t

461: Adult Ank3 loss quiets neurons and lowers a myelin protein

Yoon et al., Proceedings of the National Academy of Sciences - ANK3, which encodes the scaffolding protein ankyrin-G, is a major risk gene for bipolar disorder and schizo

460: The lupus variant that also sharpens antiviral defense

Virolainen et al., The American Journal of Human Genetics - A lupus signal on chromosome 11p15 narrows to a coding haplotype in IRF7 that most people in the world carry.

459: Cerebral palsy genetics: 515 candidate genes, evidence for 89

Arterbery et al., The American Journal of Human Genetics - Hundreds of genes have been reported as causes of cerebral palsy, yet there is no agreed model of what a pathog

458: Somatic or inherited? Reading TP53 risk from shared DNA

MacGregor et al., The American Journal of Human Genetics - Pathogenic TP53 variants found in blood have long been read as inherited Li-Fraumeni alleles, but many turn out

457: A deletion that raises Alzheimer risk, a duplication that lowers it

Quenez O et al., The American Journal of Human Genetics - Rare copy-number variants were called from 22,319 exomes covering early-onset Alzheimer disease, late-onset dise

456: Beyond exons: where heritability hides as traits get more polygenic

Fuhrer J et al., The American Journal of Human Genetics - Across 34 complex traits and disorders, a MiXeR-based framework partitions SNP heritability over 74 functional a

455: Agentic genomics: the bottleneck moves from code to judgment

Corpas M et al., Cell Genomics - A Perspective arguing that autonomous AI agents which discover, configure and chain bioinformatics operations from natural-language instr

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 hu

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 CYP

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,

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

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,

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 hu

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‑spec

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-

446: Cilia, Synuclein, and Survival: G51D Mice Reveal a Shared Parkinson’s Pathway

Lin Y‑E et al., PNAS - Knock‑in SncaG51D/G51D mice show selective loss of primary cilia in specific striatal interneurons, astrocytes, piriform cortex PV cells and olfact

445: Why Thymine Survived the UV: Photodamage Pathways Explained

Khosh Abady K et al., PNAS - Spectroscopic comparison of thymine and uracil under 265 nm UVC shows thymine is more photoreactive and absorbs more primordial UVC, yet chan