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Xilma R Ortiz-Gonzalez, MD PhD
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Associate Professor of Neurology at the Children's Hospital of Philadelphia
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Associate Director, Clinical Neurosciences Training Program, Perelman School of Medicine, University of Pennsylvania
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Co-Director, Cell Biology Research Affinity Group, CHOP
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Department: Neurology
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Graduate Group Affiliations
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Contact information
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Children’s Hospital of Philadelphia, Division of Neurology & Center for Mitochondrial and Epigenomic Medicine
Philadelphia, PA 19104
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Philadelphia, PA 19104
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Office: 215-590-1719
32 Fax: 215-590-1771
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32 Fax: 215-590-1771
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Publications
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Links
b1 Search PubMed for articles
8e TBCK Boricua paper news coverage
5f TBCK Research page
9a Dr Ortiz-Gonzalez google scholar page
e8 Media Coverage of neurogenetic disorders in Puerto Rican children
62 Ortiz-Gonzalez Lab page
7a Dr Ortiz-Gonzalez CHOP Profile
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b1 Search PubMed for articles
8e TBCK Boricua paper news coverage
5f TBCK Research page
9a Dr Ortiz-Gonzalez google scholar page
e8 Media Coverage of neurogenetic disorders in Puerto Rican children
62 Ortiz-Gonzalez Lab page
7a Dr Ortiz-Gonzalez CHOP Profile
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Education:
21 7 BS 16 (Chemistry) c
39 University of Puerto Rico, Cayey, 1997.
21 8 PhD 19 (Neuroscience) c
30 University of Minnesota, 2004.
21 7 MD 15 (Medicine) c
4c University of Minnesota Medical School, Minneapolis, 2006.
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Permanent link21 7 BS 16 (Chemistry) c
39 University of Puerto Rico, Cayey, 1997.
21 8 PhD 19 (Neuroscience) c
30 University of Minnesota, 2004.
21 7 MD 15 (Medicine) c
4c University of Minnesota Medical School, Minneapolis, 2006.
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52 Key words: Mitochondria, induced pluripotent stem cells, neurodegeneration
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a1 Research techniques: model novel human disease genes, patient-derived IPSC models, zebrafish model, mitochondrial function assays, confocal live imaging
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Description of Research Expertise
141 Research Interests: The Ortiz-Gonzalez lab is interested in pediatric neurodegenerative disorders and how these rare genetic disorders inform our knowledge of neurobiology and pathways critical for maintaining brain health. We focus on the role mitochondrial dysfunction in neurodegenerative phenotypes.8
52 Key words: Mitochondria, induced pluripotent stem cells, neurodegeneration
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a1 Research techniques: model novel human disease genes, patient-derived IPSC models, zebrafish model, mitochondrial function assays, confocal live imaging
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Description of Clinical Expertise
53 Pediatric Neurogenetics, Mitochondrial Disease, TBCK encephalopathy1a 29
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16a Hagenauer MH, David Redish A, Schiller D, Bigos KL, Flagel S, Rodriguez A, Parker Z, O'Connor A, Ortiz-Gonzalez X, Murphy D, Leeson R; Community for Rigor.: Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference. eNeuro 12: ENEURO, Mar 2025.
132 Flores-Mendez M, Tintos-Hernández JA, Ramos-Rodriguez L, Miles L, Lo TY, Song Y, Ortiz-González XR.: TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons. bioRxiv Mar 2025.
16e Lara E Terry; Holly Dubbs; Kelly H Markwalter; Sundeep Malik; Alonso J Tintos-Hernandez;David I Yule2; Xilma R. Ortiz-Gonzalez: Expanding the early childhood manifestations of ITPR1 heterozygous variants beyond congenital ataxia and Gillespie syndrome. Neurology Genetics Page: in press, 2025.
147 Marco Flores-Mendez, Laura Ohl, Thomas Roule, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh, Xilma R Ortiz-González, Naiara Akizu: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency. EMBO reports 25(9): 3990-4012. September 2024.
3e6 Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A.: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia 65(9): 2728-2750, Jul 2024.
1c8 Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR.: Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy. HGG Adv 4(4): doi: 10.1016/j.xhgg.2023.100236, September 2023.
180 Jesus A Tintos-Hernandez, Charis Ma, Holly Dubbs, Cesar A Alves, Francesca Bartolini and Xilma R Ortiz-Gonzalez: A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
15f Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H; FOXG1 Research Foundation.: Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet J Rare Dis 18: 149, June 2023.
171 Marco Flores-Mendez, Jesus A. Tintos-Hernández, Xilma R. Ortiz-González: Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model. Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
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Selected Publications
bd Ortiz-Gonzalez X, Dubbs H, Keller K, Durham E.: TBCK-Related Neurodevelopmental Disorder. GeneReviews(®) June 2025.16a Hagenauer MH, David Redish A, Schiller D, Bigos KL, Flagel S, Rodriguez A, Parker Z, O'Connor A, Ortiz-Gonzalez X, Murphy D, Leeson R; Community for Rigor.: Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference. eNeuro 12: ENEURO, Mar 2025.
132 Flores-Mendez M, Tintos-Hernández JA, Ramos-Rodriguez L, Miles L, Lo TY, Song Y, Ortiz-González XR.: TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons. bioRxiv Mar 2025.
16e Lara E Terry; Holly Dubbs; Kelly H Markwalter; Sundeep Malik; Alonso J Tintos-Hernandez;David I Yule2; Xilma R. Ortiz-Gonzalez: Expanding the early childhood manifestations of ITPR1 heterozygous variants beyond congenital ataxia and Gillespie syndrome. Neurology Genetics Page: in press, 2025.
147 Marco Flores-Mendez, Laura Ohl, Thomas Roule, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh, Xilma R Ortiz-González, Naiara Akizu: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency. EMBO reports 25(9): 3990-4012. September 2024.
3e6 Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A.: Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia 65(9): 2728-2750, Jul 2024.
1c8 Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR.: Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy. HGG Adv 4(4): doi: 10.1016/j.xhgg.2023.100236, September 2023.
180 Jesus A Tintos-Hernandez, Charis Ma, Holly Dubbs, Cesar A Alves, Francesca Bartolini and Xilma R Ortiz-Gonzalez: A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
15f Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H; FOXG1 Research Foundation.: Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet J Rare Dis 18: 149, June 2023.
171 Marco Flores-Mendez, Jesus A. Tintos-Hernández, Xilma R. Ortiz-González: Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model. Euromit 2023- International Meeting on Mitochondrial Pathology June 2023.
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