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311 results

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Page 1
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K. Keller B, et al. Among authors: elpeleg o. J Clin Immunol. 2023 Dec 19;44(1):4. doi: 10.1007/s10875-023-01614-4. J Clin Immunol. 2023. PMID: 38112969 Free PMC article.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Abela L, Gianfrancesco L, Tagliatti E, Rossignoli G, Barwick K, Zourray C, Reid KM, Budinger D, Ng J, Counsell J, Simpson A, Pearson TS, Edvardson S, Elpeleg O, Brodsky FM, Lignani G, Barral S, Kurian MA. Abela L, et al. Among authors: elpeleg o. Brain. 2024 Jun 3;147(6):2023-2037. doi: 10.1093/brain/awae020. Brain. 2024. PMID: 38242634 Free PMC article.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: elpeleg o. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
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. Srivastava S, et al. Among authors: elpeleg o. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Nociception and pain in humans lacking a functional TRPV1 channel.
Katz B, Zaguri R, Edvardson S, Maayan C, Elpeleg O, Lev S, Davidson E, Peters M, Kfir-Erenfeld S, Berger E, Ghazalin S, Binshtok AM, Minke B. Katz B, et al. Among authors: elpeleg o. J Clin Invest. 2023 Feb 1;133(3):e153558. doi: 10.1172/JCI153558. J Clin Invest. 2023. PMID: 36454632 Free PMC article.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: elpeleg o. medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013 PMID: 37425688 Free PMC article. Updated. Preprint.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F. Ung DC, et al. Among authors: elpeleg o. Mol Psychiatry. 2024 Apr;29(4):1205-1215. doi: 10.1038/s41380-024-02469-w. Epub 2024 Feb 28. Mol Psychiatry. 2024. PMID: 38418578 Free PMC article.
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Shaked HM, Rippert AL, Nomakuchi T, Izumi K, Kollman JM. O'Neill AG, et al. Among authors: elpeleg o. bioRxiv [Preprint]. 2023 Mar 15:2023.03.15.532669. doi: 10.1101/2023.03.15.532669. bioRxiv. 2023. Update in: J Biol Chem. 2023 Aug;299(8):105012. doi: 10.1016/j.jbc.2023.105012 PMID: 36993700 Free PMC article. Updated. Preprint.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: elpeleg o. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
311 results