[Preprint] Mohassel P, Rooney J, Zou Y, Johnson K, Norato G, Hearn H, Nalls M, Yun P, Ogata T, Silverstein S, Sleboda D, Roberts T, Rifkin D, Bönnemann CG. Collagen type VI regulates TGFβ bioavailability in skeletal muscle bioRxiv 2023.06.22.545964. 

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Guadagnin E*, Mohassel P*, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG. Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies. Ann Clin Transl Neurol. 2021; 8(11):2184-2198.  

 

Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021;27(7):1197-1204 

 

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. Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. PMID: 38041679; PMCID: PMC10850718. 

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Lone MA, Aaltonen MJ, Zidell A, Pedro HF, Morales Saute JA, Mathew S, Mohassel P, Bönnemann CG, Shoubridge EA, Hornemann T. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins. J Clin Invest. 2022 Sep 15;132(18):e161908. 

 

Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460.