Das Klinikum

Dr. rer. nat. Susana Peralta Morales

Dr. rer. nat. Susana Peralta Morales

Post-doctoral Researcher

Biochemistry, Molecular and Cell Biology. Mitochondrial Diseases.

Kontakt

Telefonnummer: Phone 07071 29-72212

Faxnummer: Fax 07071 29-25312

E-Mail-Adresse: susana.peralta-morales@med.uni-tuebingen.de

Klinik / Institut / Zentrum

  • Functional characterization of novel mitochondrial genes associated with disease
  • Mitochondrial diseases: long read genome and transcriptome sequencing in cases unresolved after short-read genomics
  • Integrative multi-omics approach to unravel the molecular bases in unsolved rare disease patients
  • Laugwitz L*, Buchert R*, Olguín P*, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration. Am J Hum Genet. 2025 Jan 2;112(1):168-180.
  • Kiesel AS, Laugwitz L, Buchert R, Grimmel M, Baumann S, Sturm M, Reich S, Pauly MG, Brüggemann N, Münchau A, Oleksiuk O, Synofzik M, Haack TB, Peralta S. Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.Brain. 2024 Dec 12:awae402. PMID: 39667038.
  • Brügel M, Kiesel AS, Haack TB, Peralta S. Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models. Front Neurosci. 2024 Nov 13;18:1496142. PMID: 39605788. Review.
  • Bilal M, Haack TB, Buchert R, Peralta S, Ahmad I, Faisal, Abbasi S, Ahmad W. Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation. Mol Syndromol. 2023 Dec;14(6):469-476. PMID: 38058757.
  • Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. Eur J Hum Genet. 2023 Nov;31(11):1270-1274. PMID: 37684519.
  • Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 Sep;59(9):878-887. PMID: 34656997
  • Arguello T, Peralta S, Antonicka H, Gaidosh G, Diaz F, Tu YT, Garcia S, Shiekhattar R, Barrientos A, Moraes CT. ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly. Cell Rep. 2021 Dec 21;37(12):110139. PMID: 34936866.
  • Pereira CV, Peralta S, Arguello T, Bacman SR, Diaz F, Moraes CT. Myopathy reversion in mice after restauration of mitochondrial complex I. EMBO Mol Med. 2020 Feb 7;12(2):e10674. doi: 10.15252/emmm.201910674. Epub 2020 Jan 9. PMID: 31916679.
  • Peralta S, Pinto M, Arguello T, Garcia S, Diaz F, Moraes CT. Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency. JCI Insight. 2020 Nov 5;5(21):e141183. PMID: 33148885.
  • Peralta S, Goffart S, Williams SL, Diaz F, Garcia S, Nissanka N, Area-Gomez E, Pohjoismäki J, Moraes CT. ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels. J Cell Sci. 2018 Jul 4;131(13):jcs217075.PMID: 29898916.