Browsing all papers, sorted by Most cited. Showing 25 of 39,449.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a s…
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 in…
["Class I Phosphatidylinositol 3-Kinases""Exome""Germ-Line Mutation""Humans"Saturation mutagenesis of twenty disease-associated regulatory elements at sing…
The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare diseases, fall in noncoding regions of the genome. Although catalogs of noncoding regulatory elements are steadily improving, we have a limited understanding of the functional effects of mutations within them. Here, we perform satura…
["Cell Line""CloningMolecular""Computational Biology"Enhancer AAVs for targeting spinal motor neurons and descending motor pathways…
Experimental access to cell types within the mammalian spinal cord is severely limited by the availability of genetic tools. To enable access to spinal motor neurons (SMNs) and SMN subtypes, we generated single-cell multiome datasets from mouse and macaque spinal cords and discovered putative enhancers for each neuronal population. We cloned these enhancers…
Fast searches of large collections of single-cell data using scfind.
Single-cell technologies have made it possible to profile millions of cells, but for these resources to be useful they must be easy to query and access. To facilitate interactive and intuitive access to single-cell data we have developed scfind, a single-cell analysis tool that facilitates fast search of biologically or clinically relevant marker genes in ce…
["Algorithms""Animals""Data Analysis""Data Management"Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3…
1. Autophagy. 2023 Jul;19(7):1934-1951. doi: 10.1080/15548627.2022.2164427. Epub 2023 Jan 24. Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3BP1 and autophagy-dependent elimination of stress granules. Yang C(1)(2)(3), Wang Z(1), Kang Y(1), Yi Q(1), Wang T(1), Bai Y(1), Liu Y(1). Author information: (1)School of Life Science an…
G3BP1 Is a Tunable Switch that Triggers Phase Separation to Assemble Stress Gra…
1. Cell. 2020 Apr 16;181(2):325-345.e28. doi: 10.1016/j.cell.2020.03.046. G3BP1 Is a Tunable Switch that Triggers Phase Separation to Assemble Stress Granules. Yang P(1), Mathieu C(2), Kolaitis RM(1), Zhang P(1), Messing J(2), Yurtsever U(3), Yang Z(1), Wu J(1), Li Y(4), Pan Q(5), Yu J(5), Martin EW(6), Mittag T(6), Kim HJ(1), Taylor JP(7). Author informatio…
Aquaporin-4 in glymphatic system, and its implication for central nervous syste…
1. Neurobiol Dis. 2023 Apr;179:106035. doi: 10.1016/j.nbd.2023.106035. Epub 2023 Feb 15. Aquaporin-4 in glymphatic system, and its implication for central nervous system disorders. Peng S(1), Liu J(2), Liang C(3), Yang L(1), Wang G(4). Author information: (1)56 Xinjian southern St, Department of Pharmacology, School of Basical Medical Sciences, Shanxi Medica…
Uncommon inflammatory/immune-related myelopathies.
1. J Neuroimmunol. 2021 Dec 15;361:577750. doi: 10.1016/j.jneuroim.2021.577750. Epub 2021 Oct 13. Uncommon inflammatory/immune-related myelopathies. Valencia-Sanchez C(1), Flanagan EP(2). Author information: (1)Neurology Department, Mayo Clinic, Rochester, MN, USA. (2)Neurology Department, Mayo Clinic, Rochester, MN, USA. Electronic address: flanagan.eoin@ma…
An integrative analysis of single-cell and bulk transcriptome and bidirectional…
1. Front Immunol. 2023 Dec 21;14:1289223. doi: 10.3389/fimmu.2023.1289223. eCollection 2023. An integrative analysis of single-cell and bulk transcriptome and bidirectional mendelian randomization analysis identified C1Q as a novel stimulated risk gene for Atherosclerosis. Cui HK(#)(1), Tang CJ(#)(2), Gao Y(1), Li ZA(1), Zhang J(1), Li YD(1)(2). Author infor…
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in AL…
1. Cell. 2020 Oct 29;183(3):636-649.e18. doi: 10.1016/j.cell.2020.09.020. Epub 2020 Oct 7. TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS. Yu CH(1), Davidson S(1), Harapas CR(1), Hilton JB(2), Mlodzianoski MJ(3), Laohamonthonkul P(1), Louis C(1), Low RRJ(4), Moecking J(5), De Nardo D(6), Balka KR(6), Calleja DJ(1), Moghaddas…
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of…
1. Autophagy. 2019 Apr;15(4):631-651. doi: 10.1080/15548627.2018.1535292. Epub 2018 Nov 5. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. Rusmini P(1), Cortese K(2), Crippa V(1), Cristofani R(1), Cicardi ME(1), Ferrari V(1), Vezzoli G(1), Tedesco B(1), Meroni M(1), Messi E(1), Piccolella M(1), Galbiat…
TDP-43 Pathology in Alzheimer's Disease.
1. Mol Neurodegener. 2021 Dec 20;16(1):84. doi: 10.1186/s13024-021-00503-x. TDP-43 Pathology in Alzheimer's Disease. Meneses A(1), Koga S(1), O'Leary J(1), Dickson DW(1), Bu G(1), Zhao N(2). Author information: (1)Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. (2)Department of Neuroscience, Mayo Clinic, 4500 San P…
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic…
1. Autophagy. 2021 Feb;17(2):385-401. doi: 10.1080/15548627.2020.1725377. Epub 2020 Feb 12. Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles. Yao RQ(1)(2), Ren C(1), Xia ZF(2), Yao YM(1). Author information: (1)Trauma Research Center, Fourth Medical Center of the Chine…
The P2RY12 receptor promotes VSMC-derived foam cell formation by inhibiting aut…
1. Autophagy. 2021 Apr;17(4):980-1000. doi: 10.1080/15548627.2020.1741202. Epub 2020 Mar 19. The P2RY12 receptor promotes VSMC-derived foam cell formation by inhibiting autophagy in advanced atherosclerosis. Pi S(1), Mao L(1), Chen J(1), Shi H(1), Liu Y(1), Guo X(1), Li Y(1), Zhou L(1), He H(1), Yu C(2), Liu J(3), Dang Y(3), Xia Y(1), He Q(1), Jin H(1), Li Y…
Beyond Activation: Characterizing Microglial Functional Phenotypes.
1. Cells. 2021 Aug 28;10(9):2236. doi: 10.3390/cells10092236. Beyond Activation: Characterizing Microglial Functional Phenotypes. Lier J(1)(2), Streit WJ(3), Bechmann I(1). Author information: (1)Institute of Anatomy, University of Leipzig, 04109 Leipzig, Germany. (2)Department of Neurology, University of Leipzig, 04109 Leipzig, Germany. (3)Department of Neu…
Perivascular cells induce microglial phagocytic states and synaptic engulfment…
1. Nat Neurosci. 2023 Mar;26(3):406-415. doi: 10.1038/s41593-023-01257-z. Epub 2023 Feb 6. Perivascular cells induce microglial phagocytic states and synaptic engulfment via SPP1 in mouse models of Alzheimer's disease. De Schepper S(1), Ge JZ(1), Sierksma A(2)(3), Crowley G(1), Ferreira LSS(1), Garceau D(4), Toomey CE(5)(6), Sokolova D(1), Rueda-Carrasco J(1…
Protein transmission in neurodegenerative disease.
1. Nat Rev Neurol. 2020 Apr;16(4):199-212. doi: 10.1038/s41582-020-0333-7. Epub 2020 Mar 23. Protein transmission in neurodegenerative disease. Peng C(1), Trojanowski JQ(2), Lee VM(3). Author information: (1)Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. (2)The Department of Pathology and…
Autophagy and ALS: mechanistic insights and therapeutic implications.
1. Autophagy. 2022 Feb;18(2):254-282. doi: 10.1080/15548627.2021.1926656. Epub 2021 May 31. Autophagy and ALS: mechanistic insights and therapeutic implications. Chua JP(1), De Calbiac H(2), Kabashi E(2), Barmada SJ(1). Author information: (1)Department of Neurology, University of Michigan, Ann Arbor, MI, United States. (2)Recherche translationnelle sur les…
Prolonged anesthesia induces neuroinflammation and complement-mediated microgli…
1. BMC Med. 2023 Jan 5;21(1):7. doi: 10.1186/s12916-022-02705-6. Prolonged anesthesia induces neuroinflammation and complement-mediated microglial synaptic elimination involved in neurocognitive dysfunction and anxiety-like behaviors. Xu F(#)(1), Han L(#)(1), Wang Y(1), Deng D(1), Ding Y(1), Zhao S(1), Zhang Q(2), Ma L(1), Chen X(3). Author information: (1)D…
DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that cooperat…
1. J Natl Cancer Inst. 2014 Apr;106(4):dju053. doi: 10.1093/jnci/dju053. Epub 2014 Mar 20. DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that cooperates with p53 as oncosuppressor. [Corrected]. Polato F(1), Rusconi P, Zangrossi S, Morelli F, Boeri M, Musi A, Marchini S, Castiglioni V, Scanziani E, Torri V, Broggini M. Author information:…
Acetylation in the regulation of autophagy.
1. Autophagy. 2023 Feb;19(2):379-387. doi: 10.1080/15548627.2022.2062112. Epub 2022 Apr 18. Acetylation in the regulation of autophagy. Xu Y(1), Wan W(2). Author information: (1)Laboratory of Basic Biology, Hunan First Normal University, Changsha, Hunan, China. (2)Department of Biochemistry, and Department of Thoracic Surgery of Sir Run Run Shaw Hospital, Zh…
Lipoprotein-associated and secreted phospholipases A₂ in cardiovascular disease…
1. Circulation. 2010 Nov 23;122(21):2183-200. doi: 10.1161/CIRCULATIONAHA.110.936393. Lipoprotein-associated and secreted phospholipases A₂ in cardiovascular disease: roles as biological effectors and biomarkers. Mallat Z(1), Lambeau G, Tedgui A. Author information: (1)INSERM, Paris-Cardiovascular Research Center, Université Paris Descartes, UMR, Paris, Fran…
Chemogenetic inhibition of central amygdala CRF-expressing neurons decreases al…
Post-traumatic stress disorder (PTSD) and alcohol use disorder (AUD) are often comorbid. Few treatments exist to reduce comorbid PTSD/AUD. Elucidating the mechanisms underlying their comorbidity could reveal new avenues for therapy. Here, we employed a model of comorbid PTSD/AUD, in which rats were subjected to a stressful shock in a familiar context fo…
Single-extracellular vesicle (EV) analyses validate the use of L1 Cell Adhesion…
Isolation of neuron-derived extracellular vesicles (NDEVs) with L1 Cell Adhesion Molecule (L1CAM)-specific antibodies has been widely used to identify blood biomarkers of CNS disorders. However, full methodological validation requires demonstration of L1CAM in individual NDEVs and lower levels or absence of L1CAM in individual EVs from other cells. Here, we…
HumansNeural Cell Adhesion Molecule L1Extracellular VesiclesBiomarkersA three-dimensional human neural cell culture model of Alzheimer's disease.
1. Nature. 2014 Nov 13;515(7526):274-8. doi: 10.1038/nature13800. Epub 2014 Oct 12. A three-dimensional human neural cell culture model of Alzheimer's disease. Choi SH(1), Kim YH(2), Hebisch M(3), Sliwinski C(4), Lee S(5), D'Avanzo C(4), Chen H(4), Hooli B(4), Asselin C(4), Muffat J(6), Klee JB(4), Zhang C(4), Wainger BJ(5), Peitz M(7), Kovacs DM(4), Woolf C…