User:Andrea Foote/Sandbox 1: Difference between revisions

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== Tissue Specificity ==

While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with ~~actin~~.<ref>PMID:18344281</ref>

While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with SMαA.<ref>PMID:18344281</ref>

== Disease ==

Mutations in the ''PURA'' gene resulting in haploinsufficiency of Purα are known to cause the neurological disease PURA syndrome. PURA syndrome appears early in development, , with patients exhibiting severe developmental delay, seizures, feeding difficulty, of severe intellectual disabilities, movements, vision, hypotonia, premature telarche, . This disease has no cure, and life expectancy is .<ref>PMID:29097605</ref>. Purα knock-out mice exhibit similar neurological symptoms such as severe tremor developing at about postnatal week two, and feeding difficulties. These mice die after approximately one month. Heterozygous mice display less severe symptoms including seizures upon handling. <ref>PMID:25342064</ref>

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is another disease associated with abnormal activity of Purα. Normally between __ and __ copies of __ , however in greater than __ copies can result in ___ causing delayed-onset neurological problems. FXTAS generally develops in middle age, and is characterized by tremor, ataxia, and ___.

~~You may include any references to papers as in: the use of~~ JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref>

JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref>

== References ==

@@ Line 17: / Line 17: @@
 == Tissue Specificity ==
-While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with actin.<ref>PMID:18344281</ref>
+While Purα is a ubiquitously expressed protein in all cell types, it is generally found at low levels in most tissues. However, in adult humans and mice Purα expression is highest in the brain and spinal cord, and to a lesser extent in the testes. Purα has been shown to be upregulated in cardiac myocyte gap junctions following heart transplant in mice, colocalizing with SMαA.<ref>PMID:18344281</ref>
 == Disease ==
+Mutations in the ''PURA'' gene resulting in haploinsufficiency of Purα are known to cause the neurological disease PURA syndrome. PURA syndrome appears early in development, , with patients exhibiting severe developmental delay, seizures, feeding difficulty,  of severe intellectual disabilities, movements, vision,  hypotonia, premature telarche, . This disease has no cure, and life expectancy is .<ref>PMID:29097605</ref>. Purα knock-out mice exhibit similar neurological symptoms such as severe tremor developing at about postnatal week two, and feeding difficulties. These mice die after approximately one month. Heterozygous mice display less severe symptoms including seizures upon handling. <ref>PMID:25342064</ref>
+Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is another disease associated with abnormal activity of Purα. Normally between __ and __ copies of __ , however in greater than __ copies can result in ___ causing delayed-onset neurological problems. FXTAS generally develops in middle age, and is characterized by tremor, ataxia, and ___.
-You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref>
+JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref>
 == References ==
 <references/>