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ProteomicsIntracellular lipid accumulation and mitochondrial dysfunction accompanies ER-stress caused by loss of the co-chaperone DNAJC3
Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-chaperone, have been identified in patients with multisystemic neurodegeneration and diabetes mellitus. To further unravel these pathomechanisms we employed a non-biased proteomic approach and identified dysregulation of s...
ORGANISM(S): Homo sapiens (Human) 
2022-02-15 | PXD028168 | Pride
Bip Cholesterol-stress Chaperonopathy Neuroproteomics Β-amyloid 
ProteomicsMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation, however only ~1/100 carri...
ORGANISM(S): Homo sapiens (Human) 
2020-10-13 | PXD020181 | Pride
Mitochondrial myopathy Digenic inheritance Reversible infantile respiratory chain deficiency Homoplasmic trna mutation 
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