Publications

Found 293 results
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2020
Chen X, Li Y, Wang C, Tang Y, Mok S-A, Tsai RM, Rojas JC, Karydas A, Miller BL, Boxer AL et al..  2020.  Promoting tau secretion and propagation by hyperactive p300/CBP via autophagy-lysosomal pathway in tauopathy.. Mol Neurodegener. 15(1):2.
2021
Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.
Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.
Wolujewicz P, Aguiar-Pulido V, AbdelAleem A, Nair V, Thareja G, Suhre K, Shaw GM, Finnell RH, Elemento O, M Ross E.  2021.  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.. Genet Med.
Navi BB, Sherman CP, Genova R, Mathias R, Lansdale KN, LeMoss NM, Wolfe J, Skakodub A, Kamel H, Tagawa ST et al..  2021.  Mechanisms of Ischemic Stroke in Patients with Cancer: A Prospective Study.. Ann Neurol. 90(1):159-169.
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Aleem AAbdel, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y et al..  2021.  Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.. Proc Natl Acad Sci U S A. 118(51)
2022
Průchová P, Gotvaldová K, Smolková K, Alán L, Holendová B, Tauber J, Galkin A, Ježek P, Jabůrek M.  2022.  Antioxidant Role and Cardiolipin Remodeling by Redox-Activated Mitochondrial Ca2+-Independent Phospholipase A2γ in the Brain.. Antioxidants (Basel). 11(2)
Dräger NM, Sattler SM, Huang CTzu-Ling, Teter OM, Leng K, Hashemi SHadi, Hong J, Aviles G, Clelland CD, Zhan L et al..  2022.  A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states.. Nat Neurosci.
A Banday R, Stanifer ML, Florez-Vargas O, Onabajo OO, Papenberg BW, Zahoor MA, Mirabello L, Ring TJ, Lee C-H, Albert PS et al..  2022.  Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.. Nat Genet.
Ansari F, Yoval B, Niatsetskaya Z, Ten V, Wittig I, Galkin A.  2022.  How many molecules of mitochondrial complex I are in a cell? Anal Biochem. :114646.
Biegler MT, Fedrigo O, Collier P, Mountcastle J, Haase B, Tilgner HU, Jarvis ED.  2022.  Induction of an immortalized songbird cell line allows for gene characterization and knockout by CRISPR-Cas9.. Sci Rep. 12(1):4369.
Kuo S-H, Tasset I, Cheng MM, Diaz A, Pan M-K, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P et al..  2022.  Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.. Sci Adv. 8(6):eabm6393.
Kuo S-H, Tasset I, Cheng MM, Diaz A, Pan M-K, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P et al..  2022.  Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.. Sci Adv. 8(6):eabm6393.
Xia D, Lianoglou S, Sandmann T, Calvert M, Suh JH, Thomsen E, Dugas J, Pizzo ME, DeVos SL, Earr TK et al..  2022.  Novel App knock-in mouse model shows key features of amyloid pathology and reveals profound metabolic dysregulation of microglia.. Mol Neurodegener. 17(1):41.
Xia D, Lianoglou S, Sandmann T, Calvert M, Suh JH, Thomsen E, Dugas J, Pizzo ME, DeVos SL, Earr TK et al..  2022.  Novel App knock-in mouse model shows key features of amyloid pathology and reveals profound metabolic dysregulation of microglia.. Mol Neurodegener. 17(1):41.
Buchanan JA, Elabbady L, Collman F, Jorstad NL, Bakken TE, Ott C, Glatzer J, Bleckert AA, Bodor AL, Brittain D et al..  2022.  Oligodendrocyte precursor cells ingest axons in the mouse neocortex.. Proc Natl Acad Sci U S A. 119(48):e2202580119.
Buchanan JA, Elabbady L, Collman F, Jorstad NL, Bakken TE, Ott C, Glatzer J, Bleckert AA, Bodor AL, Brittain D et al..  2022.  Oligodendrocyte precursor cells ingest axons in the mouse neocortex.. Proc Natl Acad Sci U S A. 119(48):e2202580119.
Buchanan JA, Elabbady L, Collman F, Jorstad NL, Bakken TE, Ott C, Glatzer J, Bleckert AA, Bodor AL, Brittain D et al..  2022.  Oligodendrocyte precursor cells ingest axons in the mouse neocortex.. Proc Natl Acad Sci U S A. 119(48):e2202580119.
Buchanan JA, Elabbady L, Collman F, Jorstad NL, Bakken TE, Ott C, Glatzer J, Bleckert AA, Bodor AL, Brittain D et al..  2022.  Oligodendrocyte precursor cells ingest axons in the mouse neocortex.. Proc Natl Acad Sci U S A. 119(48):e2202580119.
Yadav N, Noble C, Niemeyer JE, Terceros A, Victor J, Liston C, Rajasethupathy P.  2022.  Prefrontal feature representations drive memory recall.. Nature.
Yoval-Sánchez B, Ansari F, James J, Niatsetskaya Z, Sosunov S, Filipenko P, Tikhonova IG, Ten V, Wittig I, Rafikov R et al..  2022.  Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart.. Redox Biol. 51:102258.
Yoval-Sánchez B, Ansari F, James J, Niatsetskaya Z, Sosunov S, Filipenko P, Tikhonova IG, Ten V, Wittig I, Rafikov R et al..  2022.  Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart.. Redox Biol. 51:102258.
Stein AN, Joglekar A, Poon C-L, Tilgner HU.  2022.  ScisorWiz: Visualizing Differential Isoform Expression in Single-Cell Long-Read Data.. Bioinformatics.
Mikheenko A, Prjibelski AD, Joglekar A, Tilgner HU.  2022.  Sequencing of individual barcoded cDNAs using Pacific Biosciences and Oxford Nanopore Technologies reveals platform-specific error patterns.. Genome Res. 32(4):726-737.
Hardwick SA, Hu W, Joglekar A, Fan L, Collier PG, Foord C, Balacco J, Lanjewar S, Sampson MMcGuirk, Koopmans F et al..  2022.  Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue.. Nat Biotechnol.