Zheng Yie Yap
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View article: Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia Open
View article: Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes Open
View article: Additional file 1 of Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Additional file 1 of Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes Open
Additional file 1 : Table S1. Clinical information: detailed clinical information of individuals with biallelic variants involving ATAD3A.
View article: Functional interpretation of<i>ATAD3A</i>variants in neuro-mitochondrial phenotypes
Functional interpretation of<i>ATAD3A</i>variants in neuro-mitochondrial phenotypes Open
Background The ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholest…
View article: A biallelic pathogenic variant in the <scp><i>OGDH</i></scp> gene results in a neurological disorder with features of a mitochondrial disease
A biallelic pathogenic variant in the <span><i>OGDH</i></span> gene results in a neurological disorder with features of a mitochondrial disease Open
2‐Oxoglutarate dehydrogenase (OGDH) is a rate‐limiting enzyme in the mitochondrial TCA cycle, encoded by the OGDH gene. α‐Ketoglutarate dehydrogenase (OGDH) deficiency was previously reported in association with developmental delay, hypoto…