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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

94 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date 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. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: martinez delgado b. Mov Disord Clin Pract. 2024 Jun;11(6):708-715. doi: 10.1002/mdc3.14051. Epub 2024 May 2. Mov Disord Clin Pract. 2024. PMID: 38698576 Free PMC article.
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Carvalho LML, Rzasa J, Kerkhof J, McConkey H, Fishman V, Koksharova G, de Lima Jorge AA, Branco EV, de Oliveira DF, Martinez-Delgado B, Barrero MJ, Kleefstra T, Sadikovic B, Haddad LA, Bertola DR, Rosenberg C, Krepischi ACV. Carvalho LML, et al. Among authors: martinez delgado b. Mol Neurobiol. 2024 Dec 15. doi: 10.1007/s12035-024-04655-x. Online ahead of print. Mol Neurobiol. 2024. PMID: 39674972
Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.
Coronel R, García-Moreno E, Siendones E, Barrero MJ, Martínez-Delgado B, Santos-Ocaña C, Liste I, Cascajo-Almenara MV. Coronel R, et al. Among authors: martinez delgado b. Front Cell Neurosci. 2024 Jun 24;18:1403734. doi: 10.3389/fncel.2024.1403734. eCollection 2024. Front Cell Neurosci. 2024. PMID: 38978706 Free PMC article. Review.
Human Bronchial Epithelial Cell Transcriptome Changes in Response to Serum from Patients with Different Status of Inflammation.
Sivaraman K, Liu B, Martinez-Delgado B, Held J, Büttner M, Illig T, Volland S, Gomez-Mariano G, Jedicke N, Yevsa T, Welte T, DeLuca DS, Wrenger S, Olejnicka B, Janciauskiene S. Sivaraman K, et al. Among authors: martinez delgado b. Lung. 2024 Apr;202(2):157-170. doi: 10.1007/s00408-024-00679-1. Epub 2024 Mar 17. Lung. 2024. PMID: 38494528 Free PMC article.
Plasma levels of α1-antitrypsin-derived C-terminal peptides in PiMM and PiZZ COPD patients.
Börner FR, Lechowicz U, Wrenger S, Martinez-Delgado B, Olejnicka B, Welte T, Chorostowska-Wynimko J, Kiehntopf M, Janciauskiene S. Börner FR, et al. Among authors: martinez delgado b. ERJ Open Res. 2023 Dec 4;9(6):00329-2023. doi: 10.1183/23120541.00329-2023. eCollection 2023 Nov. ERJ Open Res. 2023. PMID: 38076674 Free PMC article.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G, Perez-Luz S, Ramos-Del Saz S, Matamala N, Hernandez-SanMiguel E, Fernandez-Prieto M, Gil-Martin S, Justo I, Marcacuzco A, Martinez-Delgado B. Gomez-Mariano G, et al. Among authors: martinez delgado b. Int J Mol Sci. 2023 Aug 10;24(16):12645. doi: 10.3390/ijms241612645. Int J Mol Sci. 2023. PMID: 37628828 Free PMC article.
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.
Pérez-Luz S, Lalchandani J, Matamala N, Barrero MJ, Gil-Martín S, Saz SR, Varona S, Monzón S, Cuesta I, Justo I, Marcacuzco A, Hierro L, Garfia C, Gomez-Mariano G, Janciauskiene S, Martínez-Delgado B. Pérez-Luz S, et al. Among authors: martinez delgado b. Int J Mol Sci. 2023 Aug 5;24(15):12472. doi: 10.3390/ijms241512472. Int J Mol Sci. 2023. PMID: 37569847 Free PMC article.
94 results