User:Andrea Foote/Sandbox 1: Difference between revisions

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== Disease ==

Mutations in the ''PURA'' gene resulting in haploinsufficiency 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>

Mutations in the ''PURA'' gene resulting in haploinsufficiency are known to cause the neurological disease PURA syndrome, which has no cure. PURA syndrome appears early in development, with patients exhibiting severe developmental delay, seizures, feeding difficulty, intellectual disabilities, vision problems, hypotonia, and premature thelarche.<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 ___.

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is another disease associated with abnormal activity of Purα.

== 3D Structures of Purα ==

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 == Disease ==
-Mutations in the ''PURA'' gene resulting in haploinsufficiency 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>
+Mutations in the ''PURA'' gene resulting in haploinsufficiency are known to cause the neurological disease PURA syndrome, which has no cure. PURA syndrome appears early in development, with patients exhibiting severe developmental delay, seizures, feeding difficulty, intellectual disabilities, vision problems, hypotonia, and premature thelarche.<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 ___.
+Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is another disease associated with abnormal activity of Purα.
 == 3D Structures of Purα ==