Publications

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2022

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#. (2022) Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38(11):110517.

 https://pubmed.ncbi.nlm.nih.gov/35294868/ Also on bioRxiv 424813; 

doi: https://www.biorxiv.org/content/10.1101/2020.12.30.424813v2
*Contributed equally
#Co-corresponding

Chung H, Rump P, Glassford MR, Fatih J, Basal A, Lu D, Marcogliese PC, Rapp M, Fock jm, Kamsteeg E, Lupski JR, Larson A, Haninbal MC, Bellen HJ, Harel T. (2022) De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Human Molecular Genetics. ddac053. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/35234901/

 

Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung H, Pan X, Sun X, Oguz M, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Sacoto MJG, Chung WK, Bellen HJ. (2022) Loss of function variants in TIAM1 are associated with developmental delay, intellectual disability and seizures. American Journal of Human Genetics. S0002-9297(22)00051-9. Online ahead of print. 

https://pubmed.ncbi.nlm.nih.gov/35240055/

 

Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura A, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Cali E, Aliberto E, Gambardella A, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. (2022) Loss of Neuron Navigator 2 impairs brain and cerebellar development. The Cerebellum. doi: 10.1007/s12311-022-01379-3. Online ahead of print. 

https://pubmed.ncbi.nlm.nih.gov/35218524/

Marcogliese PC*,#, Dutta D*, Sinha-Ray S, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ#. (2022) Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 8(3):eabl5613. https://pubmed.ncbi.nlm.nih.gov/35044823/
*Contributed equally
#Co-corresponding

 

2021

Moulton MJ, Barish S, Ralhan I, Chang J, Goodman LD, Harland JG, Marcogliese PC, Johansen J, Ioannou M, Bellen HJ. (2021) Neuronal ROS-Induced Glial Lipid Droplet Formation is Altered by Loss of Alzheimer Disease-associated Genes. Proceedings of the National Academy of Sciences of the USA. 118(52): e2112095118. https://pubmed.ncbi.nlm.nih.gov/34949639/ Also on bioRxiv 433580; doi: https://doi.org/10.1101/2021.03.03.433580.

 

Salazar JL, Yang S, Lin TQ, Li-Kroeger S, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. (2021) TM2D genes regulate Notch signaling and neuronal function in Drosophila. PLoS Genetics. 17(12):e1009962. https://pubmed.ncbi.nlm.nih.gov/34905536/ Also on bioRxiv 440660; doi: https://doi.org/10.1101/2021.04.20.440660.

2020

Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC, Undiagnosed Diseases Network, Wangler MF. (2020) Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype. Molecular Genetics & Genomic Medicine. e1542. 

https://pubmed.ncbi.nlm.nih.gov/33350591/

 

Ravenscroft TA, Janssens J, Lee PT, Tepe B, Marcogliese PC, Makhzami S, Holmes T, Aerts S, Bellen HJ. (2020) Drosophila voltage-gated sodium channels are only expressed in active neurons and are localized to distal axonal initial segment-like domains. Journal of Neuroscience. 40:7999-8024. 

https://pubmed.ncbi.nlm.nih.gov/32928889/

 

Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, The Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. (2020) De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. 29(9):1568-1579. 

https://pubmed.ncbi.nlm.nih.gov/32356556/

 

Chung HL, Mao X, Wang H, Park Y, Marcogliese PC, Rosenfels JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. (2020) De novo variants in CDK19 are associated with a new syndrome with intellectual disability and epileptic encephalopathy. American Journal of Human Genetics. 106:717-725. 

https://pubmed.ncbi.nlm.nih.gov/32330417/

 

Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. (2020) Loss or gain of function mutations in ACOX1 cause axonal loss via different mechanisms. Neuron. 106:589-606. https://pubmed.ncbi.nlm.nih.gov/32169171/

Recommended by F1000. Neuron. 106:551-3; Best paper award 2020 – BCM-MHG

 

2019

 

Ansar M, Chung H, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, TA Magid, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE. (2019) Biallelic variants in IQSEC1 cause intellectual disability, developmental delay and short stature. American Journal of Human Genetics. 105(5):907-20. https://pubmed.ncbi.nlm.nih.gov/31607425/

 

Guo H*, Bettella E*, Marcogliese PC*, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Ijntema H, Long M, Zhao W, Hu Z, Colson C, Nicolas RU, Schwartz C, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Jamra RA, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss JW, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A#, Eichler EE#. (2019) Disruptive mutations in TANC2 define a new neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10(1):1-7. https://pubmed.ncbi.nlm.nih.gov/31616000/

*Contributed equally

#Co-corresponding

 

​Shutinoski B, Hakimi M, Harmsen IE, Lunn M, Rocha J, Lengacher N, Zhou YY, Khan J, Nguyen A, Hake-Volling Q, El-Kodsi D, Li J, Alikashani A, Beauchamp C, Majithia J, Coombs K, Shimshek D, Marcogliese PC, Park DS, Rioux JD, Philpott DJ, Woulfe JM, Hayley S, Sad S, Tomlinson JJ, Brown EG, Schlossmacher MG. (2019) Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner. Science Translational Medicine. 11(511). https://pubmed.ncbi.nlm.nih.gov/31554740/

 

Yang J, Kim KS, Iyirhiaro GO, Marcogliese PC, Callaghan SM, Qu D, Kim WJ, Slack RS, Park DS. (2019) DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress. Cell death & disease. 10(2):135. https://pubmed.ncbi.nlm.nih.gov/30755590/

 

Lin G, Wang L, Marcogliese PC, Bellen HJ. (2019) Sphingolipids in the Pathogenesis of Parkinson's Disease and Parkinsonism. Trends in Endocrinology and Metabolism. 30(2):106-117. https://pubmed.ncbi.nlm.nih.gov/30528460/

 

2018

Marcogliese PC*, Shashi V*, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Disease Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ#, Pena LDM#. (2018) IRF2BPL is associated with neurological phenotypes. American Journal of Human Genetics. 103(2) 245-60. https://pubmed.ncbi.nlm.nih.gov/30057031/ Also on bioRxiv 322495; doi: https://doi.org/10.1101/322495.

*Contributed equally
#Co-corresponding

 

Kim KS*, Marcogliese PC*, Yang J, Callaghan S, Resende V, Abdel-Messih E, Marras C, Visanji NP, Huang J, Schlossmacher MG, Trinkle-Mulcahy L, Slack RS, Lang AE, Canadian Lrrk2 in Inflammation Team (CLINT), Park DS. (2018) Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease. Proceedings of the National Academy of Sciences of the USA. 115(22):E5164-E5173. https://pubmed.ncbi.nlm.nih.gov/29760073/

*Contributed equally

 

Marcogliese PC, Wangler MF. (2018) Drosophila as a Model for Human Diseases. eLS. 1-10. https://onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0005578.pub2

 

2017

Marcogliese PC, Abuaish S, Abdel-Messih E, Kabbach G, Seang S, Li G, Slack R, Haque EM, Venderova K, Park DS. (2017) LRRK2(I2020T) Functional Genetic Interactors that Modify Eye Degeneration and Dopaminergic Cell Loss in Drosophila. Human Molecular Genetics. 26(7) 1247-1257. https://pubmed.ncbi.nlm.nih.gov/28158614/

2015

Qu D, Hage A, Don-Carolis K, Huang E, Joselin A, Safarpour F, Marcogliese PC, Rousseaux MWC, Hewitt SJ, Huang T, Im DS, Callaghan S, Dewar-Darch D, Figeys D, Slack RS, Park DS. (2015) BAG2 Gene-mediated Regulation of PINK1 Protein Is Critical for Mitochondrial Translocation of PARKIN and Neuronal Survival. Journal of Biological Chemistry. 290 (51), 30441-30452. https://pubmed.ncbi.nlm.nih.gov/26538564/

2014

Sanchez G, Varaschin RK, Bueler H, Marcogliese PC, Park DS, Trudeau LE. (2014) Unimpaired striatal dopamine release in juvenile Parkin knockout, Pink1 knockout, DJ-1 knockout and LRRK2 R1441G transgenic mice. PLOS ONE. 14; 9(4) e94826. https://pubmed.ncbi.nlm.nih.gov/24733019/

2012

Rousseaux MWC, Marcogliese PC, Qu D, Hewitt SJ, Seang S, Kim RH, Slack RS, Schlossmacher MG, Lagace DC, Mak TW, Park DS. (2012) Progressive Dopaminergic Cell Loss with Unilateral-to-Bilateral Progression in a Genetic Model of Parkinson’s Disease. Proceedings of the National Academy of Sciences of the USA. 109(39): 15918-23. https://pubmed.ncbi.nlm.nih.gov/23019375/

Highlighted in Alzheimer Research Forum, Landhuis E, “Better PD model? Dopamine Neurons Die in Genetic Cross”, 2012 Sep 14.
Brundin P and Steiner J: F1000Prime Recommendation of [Rousseaux MWC et al., Proc Natl Acad Sci U S A 2012, 109(39):15918-23]. In F1000Prime, 27 Mar 2013; DOI: 10.3410/f.717979278.793471212. https://facultyopinions.com/prime/717979278#eval793471212

 

2010

Aleyasin H*, Rousseaux MWC*, Marcogliese PC, Hewitt SJ, Irrcher I, Joselin AP, Parsanejad M, Kim RH, Rizzu P, Callaghan SM, Slack RS, Mak TW, Park DS. (2010) DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway. Proceedings of the National Academy of Sciences of the USA. 107(7): 3186-3191. https://pubmed.ncbi.nlm.nih.gov/20133695/

*Contributed equally
Cited as “Must Read” by F1000 Neuroscience (Thomas B, Beal M: 2010). 

https://facultyopinions.com/prime/1927965)