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Autophagy is a regulated process that facilitates degradation of overabundant or malfunctioning cellular components.
10 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Autophagy is a regulated process that facilitates degradation of overabundant or malfunctioning cellular components. The single nucleotide mutation in the ATG4D gene causes aberrant autophagy. In addition, the mutation also encodes for other diseases, which are Lysosomal Storage Diseases (LSDs). LSDs is a group of inherited metabolic disorders that are caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates. Therefore, the missense change in the ATG4D gene forms a linkage between aberrant autophagy and LSD by the Lagotto Romagnolo.
The typical clinical sign in affected dogs is progressive ataxia with occasional nystagmus and behavioral abnormalities.
Pubmed ID: 25875846
Omia ID: 1954