Knockdown of genes involved in axonal transport enhances the toxicity of human neuromuscular disease-linked MATR3 mutations in Drosophila.
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Loss of Nardilysin, a mitochondrial co-chaperone for α-Ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration.
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes.
