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However, the underlying mechanism(s) by which impaired MAMLD1/Mamld1 leads to compromised T production remains to be clarified, although there are several possibilities such as defective activities of enzyme(s) involved in T production and compromised proliferation of Leydig cells.
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Hence, studies on acinar cell cultures from patients with Sjögren's syndrome and biopsies indicate an aberrant expression and activation of inflammatory mediators together with defective activity of key enzymes involved in saliva secretion [ 4- 6].
It was reported that defective activity of this complex causes repair defect in patients with xeroderma pigmentosum (XP), an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas [15,36].
However, quantitative PCR performed on isolated Treg cells, on cells obtained from co-cultures (Treg plus Teff plus ACs) and on splenocytes from immunised IFN-γR KO and wild-type mice does not support the concept that the defective activity of Treg cells in vitro or in vivo is due to defects in the production of TGF-β.
We have become expert in tracingchemical imbalances and the defective activity of our myriadof neurotransmitters.
Gaucher disease (GD) is characterized by glucocerebroside (GC) accumulation due to defective activity of the glucocerebrosidase (GlcCerase) enzyme.
LOGM2G results from the defective activity of the lyosomal enzyme β-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system.
Gaucher disease type 1 is caused by the defective activity of the lysosomal enzyme, acid β-glucosidase (GCase).
In order to establish whether the defective activity of PP2A was observed with other classes of substrates, we tested the activity of immunoprecipitated PP2A towards the small-molecule substrate p-nitrophenylphosphate (pNPP).
By showing that this amino acid substitution is not responsible for the defective activity of LiTXN3 (see Text S2 and Figure S2), the hypothesis that Trypanosoma TXN2 enzymes behave differently from LiTXN3, i.e. that they retain TXN activity, has no sustainability.
These parameters returned to normal values at 2 months of age, therefore suggesting that the osteoblast defective activity was transient in dtd mice.
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