Dysregulation of BMP4 receptor trafficking and signaling in fibrodysplasia Ossificans Progressiva

TY - JOUR

T1 - Dysregulation of BMP4 receptor trafficking and signaling in fibrodysplasia Ossificans Progressiva

AU - Kaplan, Frederick S.

AU - Fiori, Jennifer L.

AU - Serrano De La Peña, Lourdes

AU - Ahn, Jaimo

AU - Billings, Paul C.

AU - Shore, Eileen M.

N1 - Funding Information: This article was adapted from a lecture and article presented on May 19, 2005 to The New York Academy of Sciences. This work was supported in part by grants from The National Institutes of Health, The Fibrodysplasia Ossificans Progressiva Association, and by The Cali, Weiss, and Weldon FOP Endowments.

PY - 2005/9

Y1 - 2005/9

N2 - Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant genetic disorder of aberrant joint formation and heterotopic bone formation, and is the result of a mutation in an as-yet-unidentified gene. Dysregulated signaling pathways can be investigated as a method to identify the consequences of the mutated gene responsible for FOP and to identify potential therapeutic targets. Candidate signaling pathways for FOP are those whose dysregulation during embryonic development could account for the malformation of the great toes and whose postnatal dysregulation could explain the progressive, heterotopic endochondral ossification that is such a disabling feature of the disorder. Signaling pathways that fit these criteria are the bone morphogenic protein (BMP)-signaling pathway and its interacting pathways. A large body of data suggests that the BMP4-signaling pathway is dysregulated in FOP.

AB - Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant genetic disorder of aberrant joint formation and heterotopic bone formation, and is the result of a mutation in an as-yet-unidentified gene. Dysregulated signaling pathways can be investigated as a method to identify the consequences of the mutated gene responsible for FOP and to identify potential therapeutic targets. Candidate signaling pathways for FOP are those whose dysregulation during embryonic development could account for the malformation of the great toes and whose postnatal dysregulation could explain the progressive, heterotopic endochondral ossification that is such a disabling feature of the disorder. Signaling pathways that fit these criteria are the bone morphogenic protein (BMP)-signaling pathway and its interacting pathways. A large body of data suggests that the BMP4-signaling pathway is dysregulated in FOP.

KW - BMP receptors

KW - BMP4

KW - Fibrodysplasia ossificans progressiva (FOP)

KW - Heterotopic ossification

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U2 - https://doi.org/10.1385/BMM:3:3-4:217

DO - https://doi.org/10.1385/BMM:3:3-4:217

M3 - Article

SN - 1534-8644

VL - 3

SP - 217

EP - 223

JO - Clinical Reviews in Bone and Mineral Metabolism

JF - Clinical Reviews in Bone and Mineral Metabolism

IS - 3-4

ER -