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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Leslie ND, Valencia CA, Strauss AW, Zhang K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 May 28 [updated 2019 May 23].


Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium.

Genet Med. 2019 May 14. doi: 10.1038/s41436-019-0527-9. [Epub ahead of print]


Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.

Kandil AI, Pettit CS, Berry LN, Busso VO, Careskey M, Chesnut E, Buck DW, Leslie ND, Tamai J, McAuliffe JJ, Chidambaran V.

Anesth Analg. 2019 May 9. doi: 10.1213/ANE.0000000000004215. [Epub ahead of print]


Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Mar 26. doi: 10.1002/hep.30627. [Epub ahead of print] No abstract available.


Mechanisms of PTEN loss in cancer: It's all about diversity.

Álvarez-Garcia V, Tawil Y, Wise HM, Leslie NR.

Semin Cancer Biol. 2019 Feb 7. pii: S1044-579X(18)30059-2. doi: 10.1016/j.semcancer.2019.02.001. [Epub ahead of print] Review.


SWAP70 undergoes dynamic conformational regulation at the leading edge of migrating cells.

Kriplani N, Duncan RR, Leslie NR.

FEBS Lett. 2019 Feb;593(4):395-405. doi: 10.1002/1873-3468.13326. Epub 2019 Jan 25.


Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.

Bartlett AL, Leslie ND, Gupta A, Geller JI.

Pediatr Blood Cancer. 2018 Dec;65(12):e27392. doi: 10.1002/pbc.27392. Epub 2018 Aug 9.


A novel platform for in vivo detection of cytokine release within discrete brain regions.

Zhang K, Baratta MV, Liu G, Frank MG, Leslie NR, Watkins LR, Maier SF, Hutchinson MR, Goldys EM.

Brain Behav Immun. 2018 Jul;71:18-22. doi: 10.1016/j.bbi.2018.04.011. Epub 2018 Apr 17.


Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML.

Autism Res. 2018 Aug;11(8):1098-1109. doi: 10.1002/aur.1950. Epub 2018 Apr 2.


Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium.

Genet Med. 2018 Oct;20(10):1284-1294. doi: 10.1038/gim.2018.2. Epub 2018 Mar 22.


A simple and robust real-time qPCR method for the detection of PIK3CA mutations.

Alvarez-Garcia V, Bartos C, Keraite I, Trivedi U, Brennan PM, Kersaudy-Kerhoas M, Gharbi K, Oikonomidou O, Leslie NR.

Sci Rep. 2018 Mar 9;8(1):4290. doi: 10.1038/s41598-018-22473-9.


Inhibition of a Descending Prefrontal Circuit Prevents Ketamine-Induced Stress Resilience in Females.

Dolzani SD, Baratta MV, Moss JM, Leslie NL, Tilden SG, Sørensen AT, Watkins LR, Lin Y, Maier SF.

eNeuro. 2018 Mar 6;5(1). pii: ENEURO.0025-18.2018. doi: 10.1523/ENEURO.0025-18.2018. eCollection 2018 Jan-Feb.


Behavioural and neural sequelae of stressor exposure are not modulated by controllability in females.

Baratta MV, Leslie NR, Fallon IP, Dolzani SD, Chun LE, Tamalunas AM, Watkins LR, Maier SF.

Eur J Neurosci. 2018 Apr;47(8):959-967. doi: 10.1111/ejn.13833. Epub 2018 Feb 5.


Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ.

J Pers Med. 2018 Jan 3;8(1). pii: E2. doi: 10.3390/jpm8010002.


GSK3 and its interactions with the PI3K/AKT/mTOR signalling network.

Hermida MA, Dinesh Kumar J, Leslie NR.

Adv Biol Regul. 2017 Aug;65:5-15. doi: 10.1016/j.jbior.2017.06.003. Epub 2017 Jun 27. Review.


Pompe Disease.

Leslie N, Bailey L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Aug 31 [updated 2017 May 11].


Importin-11 keeps PTEN safe from harm.

Leslie NR.

J Cell Biol. 2017 Mar 6;216(3):539-541. doi: 10.1083/jcb.201612014. Epub 2017 Feb 13.


Prostate cancer, PI3K, PTEN and prognosis.

Wise HM, Hermida MA, Leslie NR.

Clin Sci (Lond). 2017 Feb 1;131(3):197-210. doi: 10.1042/CS20160026. Review.


Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J.

J Pediatr. 2017 Mar;182:363-370. doi: 10.1016/j.jpeds.2016.11.036. Epub 2016 Dec 7. Review. No abstract available.


Assays to Measure PTEN Lipid Phosphatase Activity In Vitro from Purified Enzyme or Immunoprecipitates.

Spinelli L, Leslie NR.

Methods Mol Biol. 2016;1447:95-105. doi: 10.1007/978-1-4939-3746-2_6.


Controlling PTEN (Phosphatase and Tensin Homolog) Stability: A DOMINANT ROLE FOR LYSINE 66.

Gupta A, Leslie NR.

J Biol Chem. 2016 Aug 26;291(35):18465-73. doi: 10.1074/jbc.M116.727750. Epub 2016 Jul 12.


Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.


Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

Berry SA, Leslie ND, Edick MJ, Hiner S, Justice K, Cameron C.

Genet Med. 2016 Dec;18(12):1276-1281. doi: 10.1038/gim.2016.57. Epub 2016 May 19.


In Cell and In Vitro Assays to Measure PTEN Ubiquitination.

Gupta A, Maccario H, Kriplani N, Leslie NR.

Methods Mol Biol. 2016;1388:155-65. doi: 10.1007/978-1-4939-3299-3_11.


The PTEN protein: cellular localization and post-translational regulation.

Leslie NR, Kriplani N, Hermida MA, Alvarez-Garcia V, Wise HM.

Biochem Soc Trans. 2016 Feb;44(1):273-8. doi: 10.1042/BST20150224. Review.


Inherited PTEN mutations and the prediction of phenotype.

Leslie NR, Longy M.

Semin Cell Dev Biol. 2016 Apr;52:30-8. doi: 10.1016/j.semcdb.2016.01.030. Epub 2016 Jan 28. Review.


Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.

Hum Pathol. 2016 Mar;49:27-32. doi: 10.1016/j.humpath.2015.09.039. Epub 2015 Oct 28.


Three-dimensional bioprinting of complex cell laden alginate hydrogel structures.

Tabriz AG, Hermida MA, Leslie NR, Shu W.

Biofabrication. 2015 Dec 21;7(4):045012. doi: 10.1088/1758-5090/7/4/045012.


Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, Leslie ND, Crimmins NA.

Pediatr Diabetes. 2016 Nov;17(7):535-539. doi: 10.1111/pedi.12335. Epub 2015 Nov 4.


Class I PI 3-kinases: Function and evolution.

Kriplani N, Hermida MA, Brown ER, Leslie NR.

Adv Biol Regul. 2015 Sep;59:53-64. doi: 10.1016/j.jbior.2015.05.002. Epub 2015 Jun 20. Review.


PTEN regulates IGF-1R-mediated therapy resistance in melanoma.

Wang J, Sinnberg T, Niessner H, Dölker R, Sauer B, Kempf WE, Meier F, Leslie N, Schittek B.

Pigment Cell Melanoma Res. 2015 Sep;28(5):572-89. doi: 10.1111/pcmr.12390.


Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.


Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P.

J Neuromuscul Dis. 2015;2(s1):S61-S62. No abstract available.


Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L, Black FM, Berg JN, Eickholt BJ, Leslie NR.

J Med Genet. 2015 Feb;52(2):128-34. doi: 10.1136/jmedgenet-2014-102803. Epub 2014 Dec 19.


11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.

Schulert GS, Bove K, McMasters R, Campbell K, Leslie N, Grom AA.

Arthritis Care Res (Hoboken). 2015 Aug;67(8):1173-9. doi: 10.1002/acr.22527. No abstract available.


Assaying PTEN catalysis in vitro.

Spinelli L, Leslie NR.

Methods. 2015 May;77-78:51-7. doi: 10.1016/j.ymeth.2014.11.003. Epub 2014 Nov 13.


Yeast-based methods to assess PTEN phosphoinositide phosphatase activity in vivo.

Rodríguez-Escudero I, Fernández-Acero T, Bravo I, Leslie NR, Pulido R, Molina M, Cid VJ.

Methods. 2015 May;77-78:172-9. doi: 10.1016/j.ymeth.2014.10.020. Epub 2014 Oct 25. Review.


PTEN inhibitors: an evaluation of current compounds.

Spinelli L, Lindsay YE, Leslie NR.

Adv Biol Regul. 2015 Jan;57:102-11. doi: 10.1016/j.jbior.2014.09.012. Epub 2014 Oct 2.


A unified nomenclature and amino acid numbering for human PTEN.

Pulido R, Baker SJ, Barata JT, Carracedo A, Cid VJ, Chin-Sang ID, Davé V, den Hertog J, Devreotes P, Eickholt BJ, Eng C, Furnari FB, Georgescu MM, Gericke A, Hopkins B, Jiang X, Lee SR, Lösche M, Malaney P, Matias-Guiu X, Molina M, Pandolfi PP, Parsons R, Pinton P, Rivas C, Rocha RM, Rodríguez MS, Ross AH, Serrano M, Stambolic V, Stiles B, Suzuki A, Tan SS, Tonks NK, Trotman LC, Wolff N, Woscholski R, Wu H, Leslie NR.

Sci Signal. 2014 Jul 1;7(332):pe15. doi: 10.1126/scisignal.2005560.


Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Wiles JR, Leslie N, Knilans TK, Akinbi H.

Pediatrics. 2014 Jun;133(6):e1781-6. doi: 10.1542/peds.2013-1105. Epub 2014 May 5. Review.


Mutant PTEN in Cancer: Worse Than Nothing.

Leslie NR, den Hertog J.

Cell. 2014 Apr 24;157(3):527-9. doi: 10.1016/j.cell.2014.04.008.


Two-photon laser-assisted device alteration in silicon integrated-circuits.

Serrels KA, Erington K, Bodoh D, Farrell C, Leslie N, Lundquist TR, Vedagarbha P, Reid DT.

Opt Express. 2013 Dec 2;21(24):29083-9. doi: 10.1364/OE.21.029083.


Review of interventions to reduce stress among mothers of infants in the NICU.

Chertok IR, McCrone S, Parker D, Leslie N.

Adv Neonatal Care. 2014 Feb;14(1):30-7. doi: 10.1097/ANC.0000000000000044. Review.


Phosphorylation by Akt within the ST loop of AMPK-α1 down-regulates its activation in tumour cells.

Hawley SA, Ross FA, Gowans GJ, Tibarewal P, Leslie NR, Hardie DG.

Biochem J. 2014 Apr 15;459(2):275-87. doi: 10.1042/BJ20131344.


Cross talk between the Akt and p38α pathways in macrophages downstream of Toll-like receptor signaling.

McGuire VA, Gray A, Monk CE, Santos SG, Lee K, Aubareda A, Crowe J, Ronkina N, Schwermann J, Batty IH, Leslie NR, Dean JL, O'Keefe SJ, Boothby M, Gaestel M, Arthur JS.

Mol Cell Biol. 2013 Nov;33(21):4152-65. doi: 10.1128/MCB.01691-12. Epub 2013 Aug 26.


MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Cao J, Wan L, Hacker E, Dai X, Lenna S, Jimenez-Cervantes C, Wang Y, Leslie NR, Xu GX, Widlund HR, Ryu B, Alani RM, Dutton-Regester K, Goding CR, Hayward NK, Wei W, Cui R.

Mol Cell. 2013 Aug 22;51(4):409-22. doi: 10.1016/j.molcel.2013.08.010.


Phosphorylation of the actin binding protein Drebrin at S647 is regulated by neuronal activity and PTEN.

Kreis P, Hendricusdottir R, Kay L, Papageorgiou IE, van Diepen M, Mack T, Ryves J, Harwood A, Leslie NR, Kann O, Parsons M, Eickholt BJ.

PLoS One. 2013 Aug 5;8(8):e71957. doi: 10.1371/journal.pone.0071957. Print 2013.


PDK1 controls upstream PI3K expression and PIP3 generation.

Dieterle AM, Böhler P, Keppeler H, Alers S, Berleth N, Drießen S, Hieke N, Pietkiewicz S, Löffler AS, Peter C, Gray A, Leslie NR, Shinohara H, Kurosaki T, Engelke M, Wienands J, Bonin M, Wesselborg S, Stork B.

Oncogene. 2014 Jun 5;33(23):3043-53. doi: 10.1038/onc.2013.266. Epub 2013 Jul 29.


Cell biology. Where is PTEN?

Leslie NR, Brunton VG.

Science. 2013 Jul 26;341(6144):355-6. doi: 10.1126/science.1242541. No abstract available.


Understanding the Diagnosis and Treatment of COPD and Asthma to Better Inform Site Selection and Patient Recruitment Planning.

Leslie N, Chiang IS, Gispert J, Brandi V, Velisetty P.

Ther Innov Regul Sci. 2013 Jul;47(4):468-473. doi: 10.1177/2168479013488880.


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