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POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: syeda sb. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: syeda sb. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.