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Melissa A. Walker, Ph.D. - Publications

Affiliations: 
2010 Columbia University, New York, NY 
Area:
Synapses and Circuits, Axon Pathfinding and Synaptogenesis, Biophysics/Ion Channels, Cellular/Molecular/Developmental Neuroscience
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14 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Walker MA, Li S, Livak KJ, Karaa A, Wu CJ, Mootha VK. T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood. Journal of Inherited Metabolic Disease. PMID 38499449 DOI: 10.1002/jimd.12726  0.463
2023 Romo L, Gold NB, Walker MA. Endocrine features of primary mitochondrial diseases. Current Opinion in Endocrinology, Diabetes, and Obesity. PMID 38047549 DOI: 10.1097/MED.0000000000000848  0.463
2023 McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, ... ... Walker M, et al. Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology. PMID 37255483 DOI: 10.1002/ana.26716  0.494
2022 Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, et al. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of Inherited Metabolic Disease. PMID 35621276 DOI: 10.1002/jimd.12526  0.305
2021 Walker MA, Miranda M, Allred A, Mootha VK. On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Current Opinion in Neurobiology. 72: 80-90. PMID 34656053 DOI: 10.1016/j.conb.2021.09.006  0.499
2021 Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, et al. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. The Journal of Clinical Investigation. 131. PMID 33463549 DOI: 10.1172/JCI136055  0.693
2020 Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, ... ... Walker MA, et al. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Research. PMID 33174596 DOI: 10.1093/nar/gkaa1011  0.384
2020 Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. The New England Journal of Medicine. PMID 32786181 DOI: 10.1056/NEJMoa2001265  0.622
2020 Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081  0.441
2019 Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. American Journal of Medical Genetics. Part A. PMID 31168944 DOI: 10.1002/ajmg.a.61196  0.354
2016 Walker MA, Mohler KP, Hopkins KW, Oakley DH, Sweetser DA, Ibba M, Frosch MP, Thibert RL. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. Journal of Child Neurology. PMID 27095821 DOI: 10.1177/0883073816643402  0.31
2014 Walker MA, Volpi S, Sims KB, Walter JE, Traggiai E. Powering the immune system: mitochondria in immune function and deficiency. Journal of Immunology Research. 2014: 164309. PMID 25309931 DOI: 10.1155/2014/164309  0.352
2014 Walker MA, Slate N, Alejos A, Volpi S, Iyengar RS, Sweetser D, Sims KB, Walter JE. Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center. The Journal of Allergy and Clinical Immunology. in Practice. 2: 465-468, 468.e1. PMID 25017538 DOI: 10.1016/j.jaip.2014.02.009  0.336
2012 Jin X, Walker MA, Felsövályi K, Vendome J, Bahna F, Mannepalli S, Cosmanescu F, Ahlsen G, Honig B, Shapiro L. Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca²+-free interdomain linkers. Proceedings of the National Academy of Sciences of the United States of America. 109: E127-34. PMID 22171007 DOI: 10.1073/Pnas.1117538108  0.434
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