Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

139 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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 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.
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.
Normalization of lipid oxidation defects arising from hypoxia early posthepatectomy prevents liver failure in mouse.
Birrer DL, Kachaylo E, Breuer E, Linecker M, Kron P, Ungethüm U, Hagedorn C, Steiner R, Kälin C, Borrego LB, Dufour JF, Foti M, Hornemann T, Clavien PA, Humar B. Birrer DL, et al. Among authors: hornemann t. Am J Transplant. 2023 Feb;23(2):190-201. doi: 10.1016/j.ajt.2022.10.003. Epub 2023 Jan 12. Am J Transplant. 2023. PMID: 36804129 Free article.
Systemic acylcarnitine levels are affected in response to multiple injuries and hemorrhagic shock - an analysis of lipidomic changes in a standardized porcine model.
Kalbas Y, Kumabe Y, Klingebiel FKL, Halvachizadeh S, Teuben MPJ, Weisskopf M, Cesarovic N, Hülsmeier AJ, Märsmann S, Hierholzer C, Hildebrand F, Hornemann T, Pfeifer R, Cinelli P, Pape HC. Kalbas Y, et al. Among authors: hornemann t. J Trauma Acute Care Surg. 2024 Mar 29. doi: 10.1097/TA.0000000000004328. Online ahead of print. J Trauma Acute Care Surg. 2024. PMID: 38556639
CerS6-dependent ceramide synthesis in hypothalamic neurons promotes ER/mitochondrial stress and impairs glucose homeostasis in obese mice.
Hammerschmidt P, Steculorum SM, Bandet CL, Del Río-Martín A, Steuernagel L, Kohlhaas V, Feldmann M, Varela L, Majcher A, Quatorze Correia M, Klar RFU, Bauder CA, Kaya E, Porniece M, Biglari N, Sieben A, Horvath TL, Hornemann T, Brodesser S, Brüning JC. Hammerschmidt P, et al. Among authors: hornemann t. Nat Commun. 2023 Nov 29;14(1):7824. doi: 10.1038/s41467-023-42595-7. Nat Commun. 2023. PMID: 38016943 Free PMC article.
Treatment with recombinant Sirt1 rewires the cardiac lipidome and rescues diabetes-related metabolic cardiomyopathy.
Costantino S, Mengozzi A, Velagapudi S, Mohammed SA, Gorica E, Akhmedov A, Mongelli A, Pugliese NR, Masi S, Virdis A, Hülsmeier A, Matter CM, Hornemann T, Melina G, Ruschitzka F, Luscher TF, Paneni F. Costantino S, et al. Among authors: hornemann t. Cardiovasc Diabetol. 2023 Nov 13;22(1):312. doi: 10.1186/s12933-023-02057-2. Cardiovasc Diabetol. 2023. PMID: 37957697 Free PMC article.
139 results