These results indicate that ERRαKO female mice, although deficient in bone trabeculae at maturity (14 wk), are resistant to age-related bone loss.
This is another product of high protein content (80%) and although deficient in isoleucine, it is very rich in lysine.
Subjects homozygous for the S135L mutation, although deficient in GALT activity in erythrocytes have approx. 10% residual activity and enzyme mass in liver, intestine and leucocytes [ 22],[ 23],[ 24].
Sapropterin (Kuvan, BioMarin Pharmaceutical, Novato, CA) is a synthetic form of the naturally occurring cofactor, tetrahydrobiopterin.19,33 Although not deficient in endogenous tetrahydrobiopterin, some patients with PAH deficiency who have some residual enzyme activity respond to administration of sapropterin with an increase in the metabolism of PHE to TYR.
Although mice deficient in Syk and Btk showed some different phenotypic features, deficiencies in either one of the kinases showed profound hematopoietic defects and reduced the susceptibility to certain experimental autoimmune disease models, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).
Although initially deficient in Fe(III) oxide reduction, the omcE-deficient mutant adapts over time to reduce Fe(III) oxide [24].
Although mice deficient in Isl1 harbor defects in cardiac morphogenesis, the role of ISL1 in human congenital heart disease is unknown [11], [12].
Although mice deficient in a murine homologue for DC-SIGN, SIGNR3−/− showed defects in early control of MTB, they mounted an efficient anti-mycobacterial adaptive immune response with granulomatous lesions comparable to wild-type controls (Tanne et al., 2009).
Although tumors deficient in BRCA1 and BRCA2 show marked sensitivity to ionizing radiation and drugs that produce DSBs [ 105], several cell-based studies of BRCA1 and BRCA2 mutation carriers failed to show increased radiosensitivity [ 106- 108].
Although mice deficient in Parkin do not display nigral degeneration, chronic administration of low-dose LPS trigger very similar neuroinflammatory and oxidative stress responses in the SNpc of both WT and Parkin-deficient mice; only the latter develops delayed and selective degeneration of DA neurons in SNpc but not in VTA [ 70].
Of note, although cells deficient in CDC28 lncRNA underwent arrest similar to wild-type cells upon stress, they were less efficient in re-entering the cell cycle, suggesting that the increase in Cdc28 protein permits a faster recovery from the cell cycle delay that is caused by stress.
