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Raffaella De Pace

eunice kennedy shriver national institute of child health and human development and national institutes of health

19H-index
53Paper Count
1.5KCitation Count
Published Papers 29
Publication Date
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New Insight in Pediatric Orthopedic Oncology: The Use of a Xeno-Hybrid Bone Substitute in Loss of Bone Tissue After Oncological Resections, a Case Series
errJournal of Clinical Medicine
IF2.9
err2026-04-06
err0
errOAAI
errRaimondo Piana; Raffaella De Pace; Michele Boffano; Carlo F. Grottoli; Nicola Ratto; Pietro Pellegrino; Maria Chiara Rossi; Giuseppe Perale
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BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
errThe American Journal of Human Genetics
IF0
err2026-03-25
err0
PREAI
errRaffaella De Pace; Carlos A. Dominguez Gonzalez; Chad D. Williamson; Guy Helman; Leslie E. Sanderson; Brianna Disanza; Nicole Hsiao-Sánchez; Amy Pizzino; Kayla Muirhead; Joshua L. Bonkowsky; Ryan J. Taft; Nouriya A. Sannaa; Patricia Dias; Ana Sofia Quintas; Mehmet Burak Mutlu; Hasan Bas; Hasan Oztürk; Majid Mojarrad; Masoome Alerasool; Shahriar Sheikhani
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Mapping brain cell-type-specific diversity of lysosomal proteins
errCell Research
IF25.9
err2026-03-16
err0
PREAI
errAdriana E. Golding; Raffaella De Pace
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errSave
Programmed ribosomal frameshifting during PLEKHM2 mRNA decoding generates a constitutively active proteoform that supports myocardial function
errScience Advances
IF12.5
err2025-10-24
err0
PREAI
errGary Loughran; Raffaella De Pace; Ningyu Ding; Jianchao Zhang; Irwin Jungreis; Gionmattia Carancini; Jonathan M. Mudge; Ji Wang; Manolis Kellis; John F. Atkins; Pavel V. Baranov; Andrew E. Firth; Xiaowei Li; Juan S. Bonifacino; Yousuf A. Khan
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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
errBrain
IF11.7
err2025-10-07
err0
PREAI
errSaikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
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Meet the authors: Raffaella De Pace, Chad Williamson, and Juan Bonifacino
errCell Chemical Biology
IF7.2
err2025-09-18
err0
PREAI
errRaffaella De Pace; Chad D. Williamson; Juan S. Bonifacino
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BLOC-1 and BORC: Complex regulators of endolysosomal dynamics
errCell Chemical Biology
IF7.2
err2025-08-26
err0
PREAI
errRaffaella De Pace; Saikat Ghosh; Chad D. Williamson; Juan S. Bonifacino
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errSave
Revolutionizing bone healing: the role of 3D models
errCELL REGENERATION
IF4.7
err2025-03-21
err0
errOAAI
errDe Pace, Raffaella; Iaquinta, Maria Rosa; Benkhalqui, Assia; D'Agostino, Antonio; Trevisiol, Lorenzo; Nocini, Riccardo; Mazziotta, Chiara; Rotondo, John Charles; Bononi, Ilaria; Tognon, Mauro; Martini, Fernanda; Mazzoni, Elisa
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Editorial: Intracellular trafficking and membrane dynamics in health and disease
errFRONTIERS IN MOLECULAR BIOSCIENCES
IF4
err2024-07-22
err0
errOAAI
errConte, Andrea; Delevoye, Cedric; De Pace, Raffaella
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errSave
The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia
errPROGRESS IN NEUROBIOLOGY
IF6.1
err2024-03-01
err2
errOAAI
errCaracci, Mario O.; Pizarro, Hector; Alarcon-Godoy, Carlos; Fuentealba, Luz M.; Farfan, Pamela; De Pace, Raffaella; Santibanez, Natacha; Cavieres, Viviana A.; Pastor, Tammy P.; Bonifacino, Juan S.; Mardones, Gonzalo A.; Marzolo, Maria-Paz
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Prevalence of IgG antibodies against Malawi polyomavirus in patients with autoimmune diseases and lymphoproliferative disorders subjected to bone marrow transplantation
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2024-01-17
err2
errOAAI
errNicol, Jerome T. J.; Mazzoni, Elisa; Iaquinta, Maria Rosa; De Pace, Raffaella; Gaboriaud, Pauline; Maximova, Natalia; Cason, Carolina; De Martino, Eleonora; Mazziotta, Chiara; Coursaget, Pierre; Touze, Antoine; Boz, Valentina; Comar, Manola; Tognon, Mauro; Martini, Fernanda
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errSave
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
errBRAIN
IF11.7
err2023-12-21
err3
errOAAI
errDe Pace, Raffaella; Maroofian, Reza; Paimboeuf, Adeline; Zamani, Mina; Zaki, Maha S.; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Zeighami, Jawaher; Williamson, Chad D.; Fleming, Emily; Zhou, Dihong; Gannon, Jennifer L.; Thiffault, Isabelle; Roze, Emmanuel; Suri, Mohnish; Zifarelli, Giovanni; Bauer, Peter; Houlden, Henry; Severino, Mariasavina; Patten, Shunmoogum A.; Farrow, Emily; Bonifacino, Juan S.
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errSave
Human Mesenchymal Stem Cells and Innovative Scaffolds for Bone Tissue Engineering Applications
errTISSUE ENGINEERING PART B-REVIEWS
IF4.6
err2023-10-01
err9
PREAI
errMazzoni, Elisa; Iaquinta, Maria Rosa; Mosaico, Maria; De Pace, Raffaella; D'Agostino, Antonio; Tognon, Mauro; Martini, Fernanda
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errSave
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2023-05-15
err13
errOAAI
errChen, Xin; Dong, Thomas; Hu, Yuhui; De Pace, Raffaella; Mattera, Rafael; Eberhardt, Kathrin; Ziegler, Marvin; Pirovolakis, Terry; Sahin, Mustafa; Bonifacino, Juan S.; Ebrahimi-Fakhari, Darius; Gray, Steven J.
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LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size (vol 80, 53, 2023)
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2023-03-04
err1
errOAAI
errSerra-Vinardell, Jenny; Sandler, Maxwell B.; De Pace, Raffaella; Manzella-Lapeira, Javier; Cougnoux, Antony; Keyvanfar, Keyvan; Introne, Wendy J.; Brzostowski, Joseph A.; Ward, Michael E.; Gahl, William A.; Sharma, Prashant; Malicdan, May Christine V.
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Phagocytosis: Phagolysosome vesiculation promotes cell corpse degradation
errCURRENT BIOLOGY
IF7.5
err2023-02-01
err0
errOAAI
errDe Pace, Raffaella; Bonifacino, Juan S.
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errSave
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2023-01-28
err11
PREAI
errSerra-Vinardell, Jenny; Sandler, Maxwell B.; De Pace, Raffaella; Manzella-Lapeira, Javier; Cougnoux, Antony; Keyvanfar, Keyvan; Introne, Wendy J.; Brzostowski, Joseph A.; Ward, Michael E.; Gahl, William A.; Sharma, Prashant; Malicdan, May Christine C.
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errSave
The adaptor protein chaperone AAGAB stabilizes AP-4 complex subunits
errMOLECULAR BIOLOGY OF THE CELL
IF2.7
err2022-10-01
err4
errOAAI
errMattera, Rafael; De Pace, Raffaella; Bonifacino, Juan S.
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Clathrin adaptor AP-1-mediated Golgi export of amyloid precursor protein is crucial for the production of neurotoxic amyloid fragments
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2022-08-01
err6
errOAAI
errJanuario, Yunan C.; Eden, Jessica; de Oliveira, Luan S.; De Pace, Raffaella; Tavares, Lucas A.; da Silva-Januario, Mara E.; Apolloni, Vinicius B.; Wilby, Elise L.; Altmeyer, Randolf; Burgos, Patricia, V; Correa, Sonia A. L.; Gershlick, David C.; daSilva, Luis L. P.
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The role of AP-4 in cargo export from the trans-Golgi network and hereditary spastic paraplegia
errBIOCHEMICAL SOCIETY TRANSACTIONS
IF4.3
err2020-10-21
err10
PREAI
errMattera, Rafael; De Pace, Raffaella; Bonifacino, Juan S.
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Research Directions

No research directions
Co-authors
Cooperation Journals
M
Manolis Kellis
H-index: 139 · Papers: 1.1K
H
Henry Houlden
H-index: 120 · Papers: 1.5K
J
Juan S. Bonifacino
H-index: 117 · Papers: 404
W
William A. Gahl
H-index: 104 · Papers: 1.3K
H
Hanns Lochmüller
H-index: 100 · Papers: 1.6K
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