The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

Balasubramanian, Karthika; Weis, MaryAnn; Eyre, David R.; Martı́n, Jorge; Ortiz‐Sanchez, Jorge; Durán, Iván; Vangala, Sitaram; Wang, Juemei; Friedman, Rick A.; Krakow, Deborah; Cohn, Daniel H.

doi:10.1002/ajmg.a.61208

Cited by 1 publication

(1 citation statement)

References 38 publications

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“…[86][87][88][89] The only study of a Col9a2 null mouse reported mild shortening of the limbs and growth plate defects, including a widening of all the zones and a large hypocellular region in the center of the proliferative zone. 87,90 Individual chondrocytes had an irregular shape and were misaligned within the chondrocyte columns of the proliferative zone. Moreover, the auditory capacity of Col9a2 null mice was significantly compromised, consistent with those individuals having Sticker Dysplasia.…”

Section: Type II Collagen Defects Can Also Cause Med-like Phenotypesmentioning

confidence: 99%

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

Dennis

Greenhalgh‐Maychell

Briggs

2020

Developmental Dynamics

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For the vast majority of the 6000 known rare disease the pathogenic mechanisms are poorly defined and there is little treatment, leading to poor quality of life and high healthcare costs. Genetic skeletal diseases (skeletal dysplasias) are archetypal examples of rare diseases that are chronically debilitating, often life-threatening and for which no treatments are currently available. There are more than 450 unique phenotypes that, although individually rare, have an overall prevalence of at least 1 per 4000 children. Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous disorder characterized by disproportionate short stature, joint pain, and early-onset osteoarthritis. MED is caused by mutations in the genes encoding important cartilage extracellular matrix proteins, enzymes, and transporter proteins. Recently, through the use of various cell and mouse models, disease mechanisms underlying this diverse phenotypic spectrum are starting to be elucidated. For example, ER stress induced as a consequence of retained misfolded mutant proteins has emerged as a unifying disease mechanisms for several forms of MED in particular and skeletal dysplasia in general. Moreover, targeting ER stress through drug repurposing has become an attractive therapeutic avenue.

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