There is a genuine need to target mammalian voltage-gated sodium channels as a form of treatment of various diseases which have been linked to their malfunction, such as epilepsy, neuropathic pain, and long QT syndrome [18 20].
There is a genuine need to target mammalian Nav channels as a form of treatment of various diseases which have been linked to their malfunction, such as epilepsy and chronic pain.
It is notable that cathepsin A, the mammalian serine carboxypeptidases, has been linked to vasodilation, with malfunctions or deficiencies of this protein causing vasoconstriction [ 112].
Heart problems are a common feature of laminopathies, but those mutations had never been linked to ARVC, Kim's specific heart malfunction.
In humans, Notch malfunction has been linked to neurovascular abnormalities, cancer and pleiotropic congenital syndromes, rendering Notch signaling a therapeutic target (e.g. [4]).
Note that the single ACAT employed by humans (generally termed hATR) is homologous to the PduO enzyme, and malfunctioning of hATR has been linked to diseases related to cobalamin deficiency, such as methylmalonic aciduria.
Frameshift mutations were described also in APC [4], a key tumor suppressor gene in the Wnt signaling pathway, the malfunction of which has been linked to the initiation of colorectal tumorigenesis [5].
Malfunctions of these receptors have been linked to many neural disorders such as depression and psychosis.
Malfunction of this pathway has been linked to numerous human disorders including cancer.
Indeed, malfunctions in mammalian clock function have been linked to many diseases including cancer, metabolic syndromes and affective disorders [ 7- 9].
