Misfolded proteins can build up in the rough endoplasmic reticulum (RER) instead of being returned to the cytosol for degradation. This buildup can cause ER stress, which may lead to cell dysfunction and cell death. For example, mutations in genes that encode collagen can cause misfolded collagen proteins to accumulate in the RER. This problem underlies inherited skeletal disorders such as spondyloepimetaphyseal dysplasia, involving abnormal bone growth, weak joints, and a greater chance of joint dislocation.
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