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Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos.
Cela O, Scrima R, Pazienza V, Merla G, Benegiamo G, Augello B, Fugetto S, Menga M, Rubino R, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N. Cela O, et al. Among authors: merla g. Biochim Biophys Acta. 2016 Apr;1863(4):596-606. doi: 10.1016/j.bbamcr.2015.12.018. Epub 2015 Dec 28. Biochim Biophys Acta. 2016. PMID: 26732296 Free article.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, … See abstract for full author list ➔ Klionsky DJ, et al. Among authors: merla g. Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. Autophagy. 2016. PMID: 26799652 Free PMC article. No abstract available.
Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay.
Scrima R, Cela O, Merla G, Augello B, Rubino R, Quarato G, Fugetto S, Menga M, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N. Scrima R, et al. Among authors: merla g. Biochim Biophys Acta. 2016 Aug;1857(8):1344-1351. doi: 10.1016/j.bbabio.2016.03.035. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060253 Free article.
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: merla g. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: merla g. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G. Fusco C, et al. Among authors: merla g. J Pediatr Genet. 2017 Jun;6(2):98-102. doi: 10.1055/s-0036-1588029. Epub 2016 Aug 31. J Pediatr Genet. 2017. PMID: 28496997 Free PMC article.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: merla g. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.
L Abbate A, Tolomeo D, Cifola I, Severgnini M, Turchiano A, Augello B, Squeo G, D Addabbo P, Traversa D, Daniele G, Lonoce A, Pafundi M, Carella M, Palumbo O, Dolnik A, Muehlematter D, Schoumans J, Van Roy N, De Bellis G, Martinelli G, Merla G, Bullinger L, Haferlach C, Storlazzi CT. L Abbate A, et al. Among authors: merla g. Leukemia. 2018 Oct;32(10):2152-2166. doi: 10.1038/s41375-018-0033-0. Epub 2018 Feb 22. Leukemia. 2018. PMID: 29467491 Free PMC article.
160 results