13 novel putative mutations in ATP7A found in a cohort of 25 Italian families
Sign Up to like & getrecommendations! Published in 2017 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-017-0010-8
Abstract: ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked… read more here.
Keywords: putative mutations; mutations atp7a; novel putative; italian families ... See more keywords
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatrics and neonatology"
DOI: 10.1016/j.pedneo.2014.05.008
Abstract: Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue… read more here.
Keywords: point mutation; disease; novo point; menkes disease ... See more keywords
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-00618-6
Abstract: Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments… read more here.
Keywords: atp7a; tgn; copper; atp7a missense ... See more keywords
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247937
Abstract: Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy… read more here.
Keywords: copper; copper histidine; atp7a gene; splice site ... See more keywords
Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Stem Cells"
DOI: 10.15283/ijsc21088
Abstract: Background and Objectives Menkes disease (MNK) is a rare X-linked recessive disease, caused by mutations in the copper transporting ATP7A gene that is required for copper homeostasis. MNK patients experience various clinical symptoms including neurological… read more here.
Keywords: mnk; neural stem; dentate gyrus; stem ... See more keywords
Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report.
Sign Up to like & getrecommendations! Published in 2020 at "Annales de biologie clinique"
DOI: 10.1684/abc.2020.1566
Abstract: Menkes disease is an X-linked recessive disorder affecting copper metabolism due to an inactivating mutation of ATP7A gene. This result in loss of copper intestinal absorption, tissue deficiency and failure in multiple essential copper-enzyme systems… read more here.
Keywords: disease diagnosis; copper; case; report ... See more keywords
Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.856300
Abstract: Copper (Cu) is an essential trace element for key biochemical reactions. Dietary or genetic copper deficiencies are associated with anemia, cardiomyopathy, and neurodegeneration. The essential requirement for copper in humans is illustrated by Menkes disease,… read more here.
Keywords: oral elesclomol; copper; copper deficiency; elesclomol treatment ... See more keywords
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.852764
Abstract: Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular… read more here.
Keywords: genome sequencing; deep intronic; patient; atp7a gene ... See more keywords
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle
Sign Up to like & getrecommendations! Published in 2021 at "Biomedicines"
DOI: 10.3390/biomedicines9040391
Abstract: Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects… read more here.
Keywords: menkes disease; enzyme metalation; copper; copper dependent ... See more keywords
Menkes disease and response to copper histidine: An Indian case series
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/0972-2327.199907
Abstract: Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological… read more here.
Keywords: copper histidine; copper; series; menkes disease ... See more keywords