Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency disorders resulting from mutations in ATP7A, or MNK. Classic Menkes disease has a severe phenotype, with death in early childhood, whereas OHS has a milder phenotype, with, mainly, connective-tissue abnormalities. Data suggest that steady-state localization of ATP7A to the trans-Golgi network (TGN) is necessary for proper activity of lysyl oxidase, which is the predominant cuproenzyme whose activity is deficient in OHS and which is essential for maintenance of connective-tissue integrity. Recently, it was reported that ATP7A-transcript levels as low as 2%–5% of normal are sufficient to result in the milder phenotype, OHS, rather than the pheno...
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration ...
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency...
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations le...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase wh...
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. W...
Background: Pronounced intra-familial variability is unusual in Menkes disease and its variants. We ...
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutation...
Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of di...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration ...
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency...
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations le...
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency d...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficien...
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase wh...
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. W...
Background: Pronounced intra-familial variability is unusual in Menkes disease and its variants. We ...
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutation...
Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of di...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
International audienceATP7A-related copper transport disorders are classically separated in three pa...
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration ...
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency...
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations le...