Výsledky vyhledávání

Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson–Gilford progeria syndrome

Autor: Renu Virmani, Thomas N. Wight, Leslie B. Gordon, Stacie Perkins, Jun Cheng, Francis S. Collins, Frank D. Kolodgie, Michelle Olive, Michael R. Erdos, Maria Eriksson, Hong San, Xuan Qu, Elizabeth G. Nabel, Santhi K. Ganesh, Hedwig Avallone, Dina A. Faddah, Ingrid A. Harten, Renee Varga, Brian C. Capell

Publikováno v: Proceedings of the National Academy of Sciences. 103:3250-3255

Children with Hutchinson–Gilford progeria syndrome (HGPS) suffer from dramatic acceleration of some symptoms associated with normal aging, most notably cardiovascular disease that eventually leads to death from myocardial infarction and/or stroke u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfdc50f7cffcfc723d5e621b767d222b
https://doi.org/10.1073/pnas.0600012103

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Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

Autor: James P. Madigan, Karen N. Conneely, Michael R. Erdos, Adrienne D. Cox, Leslie B. Gordon, Francis S. Collins, Renee Varga, Channing J. Der, James J. Fiordalisi, Brian C. Capell

Publikováno v: Proceedings of the National Academy of Sciences. 102:12879-12884

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease. HGPS is almost always caused by a de novo point mutation in the lamin A gene ( LMNA ) tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554cd95685d553c896f505240e209bbf
https://doi.org/10.1073/pnas.0506001102

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The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex

Autor: Carla M. Koehler, Lisbeth Tranebjærg, Peter J. Hynds, Renee Varga, Karin Roesch

Publikováno v: Human molecular genetics. 13(18)

The biogenesis of the mitochondrial inner membrane is dependent on two distinct 70 kDa protein complexes. TlMM8a partners with TIMM13 in the mitochondrial intermembrane space to form a 70 kDa complex and facilitates the import of the inner membrane s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3cbe541042edb1045e71c9ad63876f
https://pubmed.ncbi.nlm.nih.gov/15254020

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Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Autor: Robert D. Goldman, Michael R. Erdos, Renee Varga, Francis S. Collins, Maria Eriksson, Dale K. Shumaker, Satya Khuon, Leslie B. Gordon, Melissa G. Mendez, Yosef Gruenbaum, Anne E. Goldman

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 101(24)

Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging disorder, commonly caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near the C terminus, denoted LAΔ50. Here we show by light and electron micro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d3c1ae5e7b269533b02d9c26c65fcb
https://pubmed.ncbi.nlm.nih.gov/15184648

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