Sandbox GGC5: Difference between revisions

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=='''Titin'''==
==Titin==
<StructureSection load='1TIT' size='340' side='right' caption='Caption for this structure' scene=''>
This is a default text for your page '''Sandbox GGC5'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.
You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.


== '''Function''' ==
== Function ==
Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere. In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis.
Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere. In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis.


On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm.
On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm.
== '''Disease''' ==
== Disease ==
'''Myopathy, myofibrillar, 9, with early respiratory failure:'''
'''Myopathy, myofibrillar, 9, with early respiratory failure:'''


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'''Muscular dystrophy, limb-girdle, autosomal recessive 10:'''
'''Muscular dystrophy, limb-girdle, autosomal recessive 10:'''


This disease is characterized by progressive weakness of the pelvic and shoulder girdle muscles. Muscular dystrophy is an autosomal recessive denerative myopathy that results in severe disability observed within 20 years of its onset.


'''Salih myopathy:'''


This myyopathy is an autosomal recessive, early-onset muscular disorder. This disease is characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Minicore-like lesions with mitochondrial depletion and sarcomere disorganization and cenralized nuclei are present in the skeletal muscle biopsies of affected individuals. Cardiac muscle biopsies display a disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. This disease can result in sudden death. Mutagenesis occurs in positions 32207 and 32341 and disrupts catalytic activity.


== '''Relevance''' ==
== Relevance ==


== '''Structural highlights''' ==
== Structural highlights ==


•This is the <scene name='78/781193/Titin_rainbow_tc/1'>rainbow</scene> version of the titin molecule. This structure is colored to differentiate each chain, starting with the blue 5' amino end, ending with the red 3' carboxyl end.
•This is the <scene name='78/781193/Titin_rainbow_tc/1'>rainbow</scene> version of the titin molecule. This structure is colored to differentiate each chain, starting with the blue 5' amino end, ending with the red 3' carboxyl end.
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</StructureSection>
</StructureSection>
== '''References''' ==
== References ==
<references/>
<references/>
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