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Year Number of Results
2010 1
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2017 1
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2019 5
2020 5
2021 3
2022 7
2023 3

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28 results

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Page 1
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH; Undiagnosed Diseases Network; Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ. Dutta D, et al. Among authors: marcogliese pc. Nat Metab. 2023 Sep;5(9):1595-1614. doi: 10.1038/s42255-023-00873-0. Epub 2023 Aug 31. Nat Metab. 2023. PMID: 37653044
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glažar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, Marcogliese PC, Meyer KC. Sinha Ray S, et al. Among authors: marcogliese pc. Cell Rep. 2022 Dec 6;41(10):111751. doi: 10.1016/j.celrep.2022.111751. Cell Rep. 2022. PMID: 36476864 Free article.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: marcogliese pc. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ. Lu S, et al. Among authors: marcogliese pc. Am J Hum Genet. 2022 Apr 7;109(4):571-586. doi: 10.1016/j.ajhg.2022.01.020. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240055 Free PMC article.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. Chung HL, et al. Among authors: marcogliese pc. Hum Mol Genet. 2022 Sep 29;31(19):3231-3244. doi: 10.1093/hmg/ddac053. Hum Mol Genet. 2022. PMID: 35234901 Free PMC article.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Calì E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Accogli A, et al. Among authors: marcogliese pc. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26. Cerebellum. 2023. PMID: 35218524 Free PMC article.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Marcogliese PC, et al. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044823 Free PMC article.
TM2D genes regulate Notch signaling and neuronal function in Drosophila.
Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. Salazar JL, et al. Among authors: marcogliese pc. PLoS Genet. 2021 Dec 14;17(12):e1009962. doi: 10.1371/journal.pgen.1009962. eCollection 2021 Dec. PLoS Genet. 2021. PMID: 34905536 Free PMC article.
28 results