Temat: a-mutation - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.
Autorzy:: Mroczek-Tońska, Katarzyna
Ratajska, Dorota
Guillot, Cecile
Sąsiek, Maria
Ambroziak, Anna
Lubos, Leszek
Bartnik, Ewa
Powiązania:: https://bibliotekanauki.pl/articles/1043837.pdf
Data publikacji:: 2002
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: 11778A mutation
mitochondrial DNA
human
Leber hereditary optic neuropathy
Opis:: We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.
Źródło:: Acta Biochimica Polonica; 2002, 49, 1; 257-262
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

Artykuł

Zmień widok

na półce

Skocz do pozycji: 2.

Tytuł:: Differences in glutathione S-transferase pi expression in transgenic mice with symptoms of neurodegeneration
Autorzy:: Kaźmierczak, Beata
Kuźma-Kozakiewicz, Magdalena
Usarek, Ewa
Barańczyk-Kuźma, Anna
Powiązania:: https://bibliotekanauki.pl/articles/1039866.pdf
Data publikacji:: 2011
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: motor neuron disease
Dync1h1 mutation
SOD1G93A mutation
central nervous system
transgenic mice
glutathione S-transferase pi
Opis:: Glutathione S-transferase pi (GST pi) is an enzyme involved in cell protection against toxic electrophiles and products of oxidative stress. GST pi expression was studied in transgenic mice hybrids (B6-C3H) with symptoms of neurodegeneration harboring SOD1G93A (SOD1/+), Dync1h1 (Cra1/+) and double (Cra1/SOD1) mutations, at presymptomatic and symptomatic stages (age 70, 140, 365 days) using RT-PCR and Western blotting. The main changes in GST pi expression were observed in mice with the SODG93A mutation. In SOD1/+ and Cra1/SOD1 transgenics, with the exception of cerebellum, the changes in GST pi-mRNA accompanied those in GST pi protein. In brain cortex of both groups the expression was unchanged at the presymptomatic (age 70 days) but was lower at the symptomatic stage (age 140 days) and at both stages in hippocampus and spinal cord of SOD1/+ but not of Cra1/SOD1 mice compared to age-matched wild-type controls. In cerebellum of the presymptomatic and the symptomatic SOD1/+ mice and presymptomatic Cra1/SOD1 mice, the GST pi-mRNA was drastically elevated but the protein level remained unchanged. In Cra1/+ transgenics there were no changes in GST pi expression in any CNS region both on the mRNA and on the protein level. It can be concluded that the SOD1G93A but not the Dync1h1 mutation significantly decreases detoxification efficiency of GST pi in CNS, however the Dync1h1 mutation reduces the effects caused by the SOD1G93A mutation. Despite similarities in neurological symptoms, the differences in GST pi expression between SOD1/+ and Cra1/+ transgenics indicate a distinct pathogenic entity of these two conditions.
Źródło:: Acta Biochimica Polonica; 2011, 58, 4; 621-626
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

Artykuł

Zmień widok

na półce

Skocz do pozycji: 3.

Tytuł:: Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III
Autorzy:: Augusciak-Duma, Aleksandra
Witecka, Joanna
Sieron, Aleksander
Janeczko, Magdalena
Pietrzyk, Jacek
Ochman, Karolina
Galicka, Anna
Borszewska-Kornacka, Maria
Pilch, Jacek
Jakubowska-Pietkiewicz, Elzbieta
Powiązania:: https://bibliotekanauki.pl/articles/1038526.pdf
Data publikacji:: 2018
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: osteogenesis imperfecta
COL1A1
COL1A2
mutation
polymorphism
Opis:: Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.
Źródło:: Acta Biochimica Polonica; 2018, 65, 1; 79-86
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

Artykuł

Zmień widok

na półce

Informacja

Wyszukujesz frazę "a-mutation" wg kryterium: Temat

Źródło danych

Dostawca treści

Kolekcja

Rok wydania

Wydawca

Temat

Autor

Typ dokumentu

Język