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Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR. Hodes ME, et al. Among authors: hurley td. Am J Med Genet. 1999 Jan 15;82(2):132-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4. Am J Med Genet. 1999. PMID: 9934976
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.
Ullman JC, Mellem KT, Xi Y, Ramanan V, Merritt H, Choy R, Gujral T, Young LEA, Blake K, Tep S, Homburger JR, O'Regan A, Ganesh S, Wong P, Satterfield TF, Lin B, Situ E, Yu C, Espanol B, Sarwaikar R, Fastman N, Tzitzilonis C, Lee P, Reiton D, Morton V, Santiago P, Won W, Powers H, Cummings BB, Hoek M, Graham RR, Chandriani SJ, Bainer R, DePaoli-Roach AA, Roach PJ, Hurley TD, Sun RC, Gentry MS, Sinz C, Dick RA, Noonberg SB, Beattie DT, Morgans DJ Jr, Green EM. Ullman JC, et al. Among authors: hurley td. Sci Transl Med. 2024 Jan 17;16(730):eadf1691. doi: 10.1126/scitranslmed.adf1691. Epub 2024 Jan 17. Sci Transl Med. 2024. PMID: 38232139
The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.
Fastman NM, Liu Y, Ramanan V, Merritt H, Ambing E, DePaoli-Roach AA, Roach PJ, Hurley TD, Mellem KT, Ullman JC, Green E, Morgans D Jr, Tzitzilonis C. Fastman NM, et al. Among authors: hurley td. Cell Rep. 2022 Jul 5;40(1):111041. doi: 10.1016/j.celrep.2022.111041. Cell Rep. 2022. PMID: 35793618 Free article.
Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.
Sun RC, Young LEA, Bruntz RC, Markussen KH, Zhou Z, Conroy LR, Hawkinson TR, Clarke HA, Stanback AE, Macedo JKA, Emanuelle S, Brewer MK, Rondon AL, Mestas A, Sanders WC, Mahalingan KK, Tang B, Chikwana VM, Segvich DM, Contreras CJ, Allenger EJ, Brainson CF, Johnson LA, Taylor RE, Armstrong DD, Shaffer R, Waechter CJ, Vander Kooi CW, DePaoli-Roach AA, Roach PJ, Hurley TD, Drake RR, Gentry MS. Sun RC, et al. Among authors: hurley td. Cell Metab. 2021 Jul 6;33(7):1404-1417.e9. doi: 10.1016/j.cmet.2021.05.003. Epub 2021 May 26. Cell Metab. 2021. PMID: 34043942 Free PMC article.
Development of 2,5-dihydro-4H-pyrazolo[3,4-d]pyrimidin-4-one inhibitors of aldehyde dehydrogenase 1A (ALDH1A) as potential adjuncts to ovarian cancer chemotherapy.
Huddle BC, Grimley E, Chtcherbinine M, Buchman CD, Takahashi C, Debnath B, McGonigal SC, Mao S, Li S, Felton J, Pan S, Wen B, Sun D, Neamati N, Buckanovich RJ, Hurley TD, Larsen SD. Huddle BC, et al. Among authors: hurley td. Eur J Med Chem. 2021 Feb 5;211:113060. doi: 10.1016/j.ejmech.2020.113060. Epub 2020 Dec 3. Eur J Med Chem. 2021. PMID: 33341649 Free PMC article.
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