Results 221 to 230 of about 8,246 (240)

Copper metabolism and cuproptosis: broad perspectives in the treatment of hepatocellular carcinoma. [PDF]

Front Oncol
Liang J, Wang R, Wu H, Huang Z, Zhang R, Jiang F.   +5 more
europepmc   +1 more source

Budowa i funkcja białek ATP7A i ATP7B : ATPaz transportujących jony miedzi

, 2010
Małgorzata Lenartowicz, Wojciech Krzeptowski   +1 more
openalex   +1 more source

Menkes病患者におけるATP7A遺伝子変異同定とATP7A蛋白の検出

Menkes病患者におけるATP7A遺伝子変異同定とATP7A蛋白の検出
openaire  

Some of the next articles are maybe not open access.

Related searches:

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

Brain and Development, 2015
Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients.All patients diagnosed as MD in our hospital, seven ...
Jin Sook, Lee, Byung Chan, Lim, Ki Joong, Kim, Yong Seung, Hwang, Jung-Eun, Cheon, In-One, Kim, Moon-Woo, Seong, Sung Sup, Park, Jong-Hee, Chae   +8 more
openaire   +2 more sources

Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins

Journal of Bioenergetics and Biomembranes, 2007
Copper plays an essential role in human physiology and is indispensable for normal growth and development. Enzymes that are involved in connective tissue formation, neurotransmitter biosynthesis, iron transport, and others essential physiological processes require copper as a cofactor to mediate their reactions. The biosynthetic incorporation of copper
Rachel, Linz, Svetlana, Lutsenko
openaire   +2 more sources

Mutational analysis of the Menkes copper P-type ATPase (ATP7A)

Biochemical and Biophysical Research Communications, 2003
The Menkes protein (ATP7A; MNK) is a ubiquitous human copper-translocating P-type ATPase and it has a key role in regulating copper homeostasis. Previously we characterised fundamental steps in the catalytic cycle of the Menkes protein. In this study we analysed the role of several conserved regions of the Menkes protein, particularly within the ...
I, Voskoboinik, J, Mar, J, Camakaris
openaire   +2 more sources

Twenty-five novel mutations including duplications in the ATP7A gene

Clinical Genetics, 2011
Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childhood, whereas OHS has a milder ...
Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M., DANESINO, CESARE   +14 more
openaire   +3 more sources

Small amounts of functional ATP7A protein permit mild phenotype

Journal of Trace Elements in Medicine and Biology, 2015
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. More than 400 different mutations have been identified in the ATP7A gene.
openaire   +2 more sources

Report of a novel ATP7A mutation causing distal motor neuropathy

Neuromuscular Disorders, 2019
We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were ...
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A   +18 more
openaire   +4 more sources

Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease

Journal of Trace Elements in Medicine and Biology, 2014
Wilson's disease (WND) is an inherited disorder of copper metabolism. Divalent metal transporter1 (DMT1) and ATP7A play important roles in metal transport in humans. The frequency of two single nucleotide polymorphisms of the DMT1 gene: DMT1 IVS4 C>A, DMT1 11245 T>C and two of the ATP7A gene: rs1062472 T>C, ATP7A rs 2227291 G>C have been evaluated in a
Adam, Przybyłkowski, Grażyna, Gromadzka, Anna, Członkowska   +2 more
openaire   +2 more sources