scholarly journals Menkes Disease

2021 ◽  
Vol 24 (12) ◽  
pp. 919-920
Author(s):  
Mahmoud Reza Ashrafi ◽  
Dorsa Ghasemi ◽  
Moeinadin Safavi
Keyword(s):  
Menkes Disease

Genomic Organization of the Mottled Gene, the Mouse Homologue of the Human Menkes Disease Gene

Genomics ◽  
1996 ◽  
Vol 37 (1) ◽  
pp. 96-104 ◽  
Author(s):  
Chiara Cecchi ◽  
Philip Avner
Keyword(s):  
Genomic Organization ◽  
Disease Gene ◽  
Menkes Disease ◽  
Mouse Homologue

Degradation of 35S-labeled metallothionein in the liver and the kidney of Brindled mice: Model for Menkes' disease

Life Sciences ◽  
1981 ◽  
Vol 28 (26) ◽  
pp. 2953-2959 ◽  
Author(s):  
Hans W. Prins ◽  
Cornelis J.A. Van den Hamer
Keyword(s):  
Menkes Disease ◽  
Mice Model ◽  
Brindled Mice

Anesthesia for a child with Menkes disease

2008 ◽  
pp. ???-??? ◽  
Author(s):  
Maurizio Passariello ◽  
Nicole Almenrader ◽  
Paolo Pietropaoli
Keyword(s):  
Menkes Disease

Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane

1999 ◽  
Vol 112 (11) ◽  
pp. 1721-1732 ◽  
Author(s):  
M.J. Francis ◽  
E.E. Jones ◽  
E.R. Levy ◽  
R.L. Martin ◽  
S. Ponnambalam ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Golgi Apparatus ◽  
Transmembrane Domain ◽  
Menkes Disease ◽  
Cytoplasmic Domain ◽  
Endocytic Pathway ◽  
Site Directed Mutagenesis ◽  
Trans Golgi Network ◽  
C Terminus ◽  
Golgi Network

The protein encoded by the Menkes disease gene (MNK) is localised to the Golgi apparatus and cycles between the trans-Golgi network and the plasma membrane in cultured cells on addition and removal of copper to the growth medium. This suggests that MNK protein contains active signals that are involved in the retention of the protein to the trans-Golgi network and retrieval of the protein from the plasma membrane. Previous studies have identified a signal involved in Golgi retention within transmembrane domain 3 of MNK. To identify a motif sufficient for retrieval of MNK from the plasma membrane, we analysed the cytoplasmic domain, downstream of transmembrane domain 7 and 8. Chimeric constructs containing this cytoplasmic domain fused to the reporter molecule CD8 localised the retrieval signal(s) to 62 amino acids at the C terminus. Further studies were performed on putative internalisation motifs, using site-directed mutagenesis, protein expression, chemical treatment and immunofluorescence. We observed that a di-leucine motif (L1487L1488) was essential for rapid internalisation of chimeric CD8 proteins and the full-length Menkes cDNA from the plasma membrane. We suggest that this motif mediates the retrieval of MNK from the plasma membrane into the endocytic pathway, via the recycling endosomes, but is not sufficient on its own to return the protein to the Golgi apparatus. These studies provide a basis with which to identify other motifs important in the sorting and delivery of MNK from the plasma membrane to the Golgi apparatus.

CONGENITAL CUTIS LAXA: A RARE GENODERMATOSIS

2021 ◽  
pp. 20-21
Author(s):  
Vinaya Ajaykumar Singh ◽  
Mazhar Khan ◽  
Poonam Wade ◽  
Navina Desai ◽  
Sushma Malik
Keyword(s):  
Metabolic Disorders ◽  
Skin Diseases ◽  
Febrile Illness ◽  
Menkes Disease ◽  
Female Child ◽  
Severe Form ◽  
Cutis Laxa ◽  
Facial Features ◽  
Elastic Tissue ◽  
Tissue Abnormalities

Cutis Laxa (CL) / generalized elastolysis / dermatomegaly is a heterogeneous group of disorders which are related to elastic tissue abnormalities. Depending on extent of abnormal elastic tissue, it may be mild or severe. Severe form presents with loose, inelastic, wrinkled skin resembling ill tted suit. Infant has characteristic facial features like old man appearance, a hooked nose, a short columella, a long upper lip with long philtrum, and everted lower eyelids. CL is categorised as congenital or acquired and the inheritance can be autosomal dominant or recessive, or X linked. Occasionally a few metabolic disorders like Menkes disease, disorders of glycosylation are associated with Congenital CL. Acquired cutis laxa has developed after a febrile illness and various inammatory skin diseases. Here we present a case of a full-term SGA (small for gestational age) female child born with features of CL.

scholarly journals Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

2011 ◽  
Vol 26 (7) ◽  
pp. 951 ◽  
Author(s):  
Yong Hyuk Kim ◽  
Ran Lee ◽  
Han Wook Yoo ◽  
Mi-Sun Yum ◽  
Sun Hwan Bae ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Menkes Disease ◽  
Korean Patient ◽  
Atp7a Gene

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

2019 ◽  
Vol 126 (1) ◽  
pp. 6-13 ◽  
Author(s):  
Filippo Pinto e Vairo ◽  
Bruna Cristine Chwal ◽  
Silvana Perini ◽  
Maria Angélica Pires Ferreira ◽  
Ana Carolina de Freitas Lopes ◽  
...  
Keyword(s):  
Systematic Review ◽  
Menkes Disease ◽  
Diagnosis And Treatment ◽  
Evidence Based ◽  
Evidence Based Guideline
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