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H627

Autophagy is a regulated process that facilitates degradation of overabundant or malfunctioning cellular components.

10 working days

Specifications

General information

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.

Clinical features

The typical clinical sign in affected dogs is progressive ataxia with occasional nystagmus and behavioral abnormalities.

Additional information

References

Pubmed ID: 25875846

Omia ID: 1954

Year published:

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1. Select your product(s)

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.