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Page 1
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S. Dohrn MF, et al. Among authors: hornemann t. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):201-205. doi: 10.1136/jnnp-2023-332130. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041684 Free PMC article.
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T. Lone MA, et al. Among authors: hornemann t. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37348646
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. Among authors: hornemann t. 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.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: hornemann t. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Chemogenomic Screening in a Patient-Derived 3D Fatty Liver Disease Model Reveals the CHRM1-TRPM8 Axis as a Novel Module for Targeted Intervention.
Youhanna S, Kemas AM, Wright SC, Zhong Y, Klumpp B, Klein K, Motso A, Michel M, Ziegler N, Shang M, Sabatier P, Kannt A, Sheng H, Oliva-Vilarnau N, Büttner FA, Seashore-Ludlow B, Schreiner J, Windbergs M, Cornillet M, Björkström NK, Hülsmeier AJ, Hornemann T, Olsen JV, Wang Y, Gramignoli R, Sundström M, Lauschke VM. Youhanna S, et al. Among authors: hornemann t. Adv Sci (Weinh). 2024 Nov 28:e2407572. doi: 10.1002/advs.202407572. Online ahead of print. Adv Sci (Weinh). 2024. PMID: 39605182
Concordant inter-laboratory derived concentrations of ceramides in human plasma reference materials via authentic standards.
Torta F, Hoffmann N, Burla B, Alecu I, Arita M, Bamba T, Bennett SAL, Bertrand-Michel J, Brügger B, Cala MP, Camacho-Muñoz D, Checa A, Chen M, Chocholoušková M, Cinel M, Chu-Van E, Colsch B, Coman C, Connell L, Sousa BC, Dickens AM, Fedorova M, Eiríksson FF, Gallart-Ayala H, Ghorasaini M, Giera M, Guan XL, Haid M, Hankemeier T, Harms A, Höring M, Holčapek M, Hornemann T, Hu C, Hülsmeier AJ, Huynh K, Jones CM, Ivanisevic J, Izumi Y, Köfeler HC, Lam SM, Lange M, Lee JC, Liebisch G, Lippa K, Lopez-Clavijo AF, Manzi M, Martinefski MR, Math RGH, Mayor S, Meikle PJ, Monge ME, Moon MH, Muralidharan S, Nicolaou A, Nguyen-Tran T, O'Donnell VB, Orešič M, Ramanathan A, Riols F, Saigusa D, Schock TB, Schwartz-Zimmermann H, Shui G, Singh M, Takahashi M, Thorsteinsdóttir M, Tomiyasu N, Tournadre A, Tsugawa H, Tyrrell VJ, van der Gugten G, Wakelam MO, Wheelock CE, Wolrab D, Xu G, Xu T, Bowden JA, Ekroos K, Ahrends R, Wenk MR. Torta F, et al. Among authors: hornemann t. Nat Commun. 2024 Oct 3;15(1):8562. doi: 10.1038/s41467-024-52087-x. Nat Commun. 2024. PMID: 39362843 Free PMC article.
Endothelial metabolic control of insulin sensitivity through resident macrophages.
Zhang J, Sjøberg KA, Gong S, Wang T, Li F, Kuo A, Durot S, Majcher A, Ardicoglu R, Desgeorges T, Mann CG, Soro Arnáiz I, Fitzgerald G, Gilardoni P, Abel ED, Kon S, Olivares-Villagómez D, Zamboni N, Wolfrum C, Hornemann T, Morscher R, Tisch N, Ghesquière B, Kopf M, Richter EA, De Bock K. Zhang J, et al. Among authors: hornemann t. Cell Metab. 2024 Nov 5;36(11):2383-2401.e9. doi: 10.1016/j.cmet.2024.08.008. Epub 2024 Sep 12. Cell Metab. 2024. PMID: 39270655 Free article.
Inhibition of de novo ceramide synthesis by sirtuin-1 improves beta-cell function and glucose metabolism in type 2 diabetes.
Velagapudi S, Karsai G, Karsai M, Mohammed SA, Montecucco F, Liberale L, Lee H, Carbone F, Adami GF, Yang K, Crucet M, Stein S, Paneni F, Lapikova-Bryhinska T, Jang HD, Kraler S, Vdovenko D, Züllig RA, Camici GG, Kim HS, Laaksonen R, Gerber PA, Hornemann T, Akhmedov A, Lüscher TF. Velagapudi S, et al. Among authors: hornemann t. Cardiovasc Res. 2024 Sep 21;120(11):1265-1278. doi: 10.1093/cvr/cvae100. Cardiovasc Res. 2024. PMID: 38739545
145 results