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RAB7 deficiency impairs pulmonary artery endothelial function and promotes pulmonary hypertension.
Piper B, Bogamuwa S, Hossain T, Farkas D, Rosas L, Green AC, Newcomb G, Sun N, Ovando-Ricardez JA, Horowitz JC, Bhagwani AR, Yang H, Kudryashova TV, Rojas M, Mora AL, Yan P, Mallampalli RK, Goncharova EA, Eckmann DM, Farkas L. Piper B, et al. J Clin Invest. 2024 Feb 1;134(3):e169441. doi: 10.1172/JCI169441. J Clin Invest. 2024. PMID: 38015641 Free PMC article.
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Romay MC, Knutsen RH, Ma F, Mompeón A, Hernandez GE, Salvador J, Mirkov S, Batra A, Sullivan DP, Procissi D, Buchanan S, Kronquist E, Ferrante EA, Muller WA, Walshon J, Steffens A, McCortney K, Horbinski C, Tournier-Lasserve E, Sonabend AM, Sorond FA, Wang MM, Boehm M, Kozel BA, Iruela-Arispe ML. Romay MC, et al. J Clin Invest. 2024 Jan 16;134(2):e166134. doi: 10.1172/JCI166134. J Clin Invest. 2024. PMID: 38015629 Free PMC article.
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G. Gardin A, et al. J Clin Invest. 2024 Jan 16;134(2):e172018. doi: 10.1172/JCI172018. J Clin Invest. 2024. PMID: 38015640 Free PMC article.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.