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mTORC1 Activation Requires DRAM-1 by Facilitating Lysosomal Amino Acid Efflux.
Beaumatin F, O'Prey J, Barthet VJA, Zunino B, Parvy JP, Bachmann AM, O'Prey M, Kania E, Gonzalez PS, Macintosh R, Lao LY, Nixon C, Lopez J, Long JS, Tait SWG, Ryan KM. Beaumatin F, et al. Among authors: macintosh r. Mol Cell. 2019 Oct 3;76(1):163-176.e8. doi: 10.1016/j.molcel.2019.07.021. Epub 2019 Sep 3. Mol Cell. 2019. PMID: 31492633 Free PMC article.
Autophagy in tumour cell death.
Macintosh RL, Ryan KM. Macintosh RL, et al. Semin Cancer Biol. 2013 Oct;23(5):344-51. doi: 10.1016/j.semcancer.2013.05.006. Epub 2013 Jun 14. Semin Cancer Biol. 2013. PMID: 23774296 Review.
"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Robertson EG, Roberts NJ, Le Marne F, Beavis E, Macintosh R, Kelada L, Best S, Goranitis I, Pierce K, Gill D, Sachdev R, Bye A, Palmer EE. Robertson EG, et al. Among authors: macintosh r. Eur J Paediatr Neurol. 2023 Nov;47:94-104. doi: 10.1016/j.ejpn.2023.09.010. Epub 2023 Oct 7. Eur J Paediatr Neurol. 2023. PMID: 37832466 Free article.
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.
Selvanathan A, Forwood C, Russell J, Batten K, Thompson S, Palmer EE, Macintosh R, Nightingale S, Mitchell R, Alvaro F, Dudding-Byth T, Lunke S, Christodoulou J, Stark Z, White F, Jones SA, Bhattacharya K. Selvanathan A, et al. Among authors: macintosh r. Pediatr Blood Cancer. 2023 Apr 24:e30394. doi: 10.1002/pbc.30394. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37092873 No abstract available.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: macintosh r. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.
Robertson EG, Kelada L, Best S, Goranitis I, Grainger N, Le Marne F, Pierce K, Nevin SM, Macintosh R, Beavis E, Sachdev R, Bye A, Palmer EE. Robertson EG, et al. Among authors: macintosh r. BMJ Open. 2022 Oct 26;12(10):e063249. doi: 10.1136/bmjopen-2022-063249. BMJ Open. 2022. PMID: 36288836 Free PMC article.
129 results