NDRI: Publications

Rare Disease • 2014 • NeuroMolecular Medicine 16(4): 714-726. PMID: 25081190.

Mitochondrial Oxidative Phosphorylation Transcriptome Alterations in Human Amyotrophic Lateral Sclerosis Spinal Cord and Blood.

Ladd AC, Keeney PM, Govind MM, Bennett JP Jr

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Rare Disease • 2014 • American Journal of Respiratory Critical Care Medicine 189(2): 214-222. PMID: 24160862.

Future directions in idiopathic pulmonary fibrosis research. An NHLBI workshop report.

Blackwell TS, Tager AM, Borok Z, et al

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Rare Disease • 2014 • Cell Reports 7(2): 412-423. PMID: 24726356.

Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK.

Goncharova EA, Goncharov DA, Fehrenbach M, Khavin I, Ducka B, Hino O, Colby TV, Merrilees MJ, Haczku A, Albelda SM, Krymskaya VP

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Rare Disease • 2014 • Journal of Medicinal Chemistry 57(23): 9776-9795. PMID: 25441013.

Discovery of N-(2,4-Di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide (VX-770, Ivacaftor), a Potent and Orally Bioavailable CFTR Potentiator.

Hadida S, Van Goor F, Zhou J, Arumugam V, McCartney J, Hazlewood A, Decker C, Negulescu P, Grootenhuis PD

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Rare Disease • 2014 • Science Reports 4: 4608. PMID: 24714342.

In vitro model suggests oxidative stress involved in keratoconus disease.

Karamichos D, Hutcheon AE, Rich CB, Trinkaus-Randall V, Asara JM, Zieske JD

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Rare Disease • 2014 • American Journal of Physiology - Lung Cellular and Molecular Physiology 306(8): L736-L348. PMID: 24583879.

Bleomycin delivery by osmotic minipump: similarity to human scleroderma interstitial lung disease.

Lee R, Reese C, Bonner M, Tourkina E, Hajdu Z, Riemer EC, Silver RM, Visconti RP, Hoffman S

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Rare Disease • 2014 • Biomarkers in Medicine 8(5): 641-652. PMID: 25123033.

Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M

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Rare Disease • 2014 • PLoS One 9(10): e104809. PMID: 25347447.

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis.

Li C, Zhang E, Sun Y, Lee PS, Zhan Y, Guo Y, Osorio JC, Rosas IO, Xu KF, Kwiatkowski DJ, Yu JJ

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Rare Disease • 2014 • Pharmacology Research 31(7): 1644-1655. PMID: 24562808.

Interindividual Variability in the Cardiac Expression of Anthracycline Reductases in Donors With and Without Down Syndrome.

Quiñones-Lombraña A, Ferguson D, Hageman R, Kalabus JL, Redzematovic A, Blanco JG

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Rare Disease • 2014 • Neuron 81(5): 1001-1008. PMID: 24508385.

Necroptosis drives motor neuron death in models of both sporadic and familial ALS.

Re DB, Le Verche V, Yu C, Amoroso MW, Politi KA, Phani S, Ikiz B, Hoffmann L, Koolen M, Nagata T, Papadimitriou D, Nagy P, Mitsumoto H, Kariya S, Wichterle H, Henderson CE, Przedborski S

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