کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8479612 | 1551344 | 2018 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Minor spliceosome and disease
ترجمه فارسی عنوان
اسپلیتزیوم کوچک و بیماری
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
چکیده انگلیسی
The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5â² splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome. A common theme in these diseases is the detection of elevated levels of transcripts containing U12-type introns, of which a subset is associated with other splicing defects. Here we review the present understanding of minor spliceosome diseases, particularly those associated with the specific components of the minor spliceosome. We also present a model for interpreting the molecular-level consequences of the different diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Cell & Developmental Biology - Volume 79, July 2018, Pages 103-112
Journal: Seminars in Cell & Developmental Biology - Volume 79, July 2018, Pages 103-112
نویسندگان
Bhupendra Verma, Maureen V. Akinyi, Antto J. Norppa, Mikko J. Frilander,