Melbourne researchers have unlocked important information that could lead to improved treatment of a rare and serious genetic condition.
Jul 14, 2017
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A new rare muscle disorder has been identified by researchers at Ruhr-Universität Bochum (RUB). This hereditary disease is caused by a defect in the BICD2 gene that manifests itself in altered cellular transport processes ...
Mar 22, 2017
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For more than a decade, researchers have tried to figure out the role of a membrane transport protein involved with a rare, hereditary condition that results in vision loss. Numerous papers have been published, but no single ...
Dec 1, 2016
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An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The mutation disrupts normal protein ...
Jul 28, 2016
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Cystinuria occurs in one out of every 7,000 in the world, one out of every 10,000 -20,000 in Japan, but its curative treatment has not been established. AGT1/SLC7A13, a protein, is an unknown factor that binds with the protein ...
Apr 4, 2016
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To date, studies in pregnant women examining transport of drugs across the placenta are rare and inadequate, said Tomo Nabekura, PhD. Such knowledge could be vital to preserving fetal health. In a new laboratory study, Nabekura ...
Oct 14, 2015
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A serious medical problem that oncologists face is multi-drug resistant cancers. In order to address this issue, Guillermo Aquino-Jarquín from the Children's Hospital Federico Gómez of Mexico, seeks expression profiles ...
May 29, 2015
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An important function of the human placenta is to protect the fetus from detrimental substances in maternal blood, such as glucocorticoids or toxins. Placental membrane-bound transporter proteins, known as multidrug resistance ...
May 8, 2015
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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that primarily kills motor neurons, leading to paralysis and death 2 to 5 years from diagnosis. Currently ALS has no ...
Nov 20, 2014
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A new study published in the prestigious publication The EMBO Journal shows that the mitochondrial protein Mfn2 may be a future therapeutic target for neuronal death reduction in the late phases of an ischemic stroke. The ...
Sep 24, 2014
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