Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Expression pattern and alternative splicing of HTT gene in human tissues. / Malakhova, A. A.; Elisaphenko, E. A.
в: Genes and Cells, Том 12, № 4, 01.01.2017, стр. 26-32.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Expression pattern and alternative splicing of HTT gene in human tissues
AU - Malakhova, A. A.
AU - Elisaphenko, E. A.
PY - 2017/1/1
Y1 - 2017/1/1
N2 - The HTT gene (Huntingtin, IT-15) was described in 1993 as highly expressed in various parts of the brain and other human and rodent tissues. The interest to this gene is due to the fact that the expansion of trinucleotide repeats in the first exon leads to the Huntington’s disease. However, the causes of selective death of striata neurons in the course of the disease development are still unknown. Studying the HTT expression pattern in different tissues allows us to understand the role of HTT isoforms in different human tissues and organs. We studied the expression and alternative splicing of HTT in different parts of the brain and other human tissues in healthy people and Huntington’s disease patients. No aberrant HTT forms were found in striatal neurons. This confirms the important role of the HTT gene for this type of neurons.
AB - The HTT gene (Huntingtin, IT-15) was described in 1993 as highly expressed in various parts of the brain and other human and rodent tissues. The interest to this gene is due to the fact that the expansion of trinucleotide repeats in the first exon leads to the Huntington’s disease. However, the causes of selective death of striata neurons in the course of the disease development are still unknown. Studying the HTT expression pattern in different tissues allows us to understand the role of HTT isoforms in different human tissues and organs. We studied the expression and alternative splicing of HTT in different parts of the brain and other human tissues in healthy people and Huntington’s disease patients. No aberrant HTT forms were found in striatal neurons. This confirms the important role of the HTT gene for this type of neurons.
KW - Alternative splicing
KW - HTT gene
KW - Striatal neurons
UR - http://www.scopus.com/inward/record.url?scp=85044571803&partnerID=8YFLogxK
U2 - 10.23868/201707026
DO - 10.23868/201707026
M3 - Article
AN - SCOPUS:85044571803
VL - 12
SP - 26
EP - 32
JO - Genes and Cells
JF - Genes and Cells
SN - 2313-1829
IS - 4
ER -
ID: 12300833