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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
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, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. Dutta D, et al. Among authors: walker ma. Hum Mol Genet. 2020 Jun 3;29(9):1568-1579. doi: 10.1093/hmg/ddaa081. Hum Mol Genet. 2020. PMID: 32356556 Free PMC article.
Hereditary Myelopathies.
Walker MA. Walker MA. Semin Neurol. 2021 Jun;41(3):303-308. doi: 10.1055/s-0041-1725153. Epub 2021 Mar 4. Semin Neurol. 2021. PMID: 33663004 Review.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: walker ma. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.
Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK. Rath S, et al. Among authors: walker ma. Nucleic Acids Res. 2021 Jan 8;49(D1):D1541-D1547. doi: 10.1093/nar/gkaa1011. Nucleic Acids Res. 2021. PMID: 33174596 Free PMC article.
Endocrine features of primary mitochondrial diseases.
Romo L, Gold NB, Walker MA. Romo L, et al. Among authors: walker ma. Curr Opin Endocrinol Diabetes Obes. 2024 Feb 1;31(1):34-42. doi: 10.1097/MED.0000000000000848. Epub 2023 Dec 4. Curr Opin Endocrinol Diabetes Obes. 2024. PMID: 38047549 Free PMC article. Review.
306 results