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glutathione and bell's palsy Facial (Bell's Palsy) - Clinical Pathology Flashcards Vitamin C Deficiency as a
Description
The motheaten phenotype is due to a splicing mutation in SHP1 causing an absence of detectable protein and mice that have severe disorders of hematopoietic cells resulting in death within 3 weeks after birth (148)

NNMT methylates nicotinamide (a form of vitamin B3) using S-adenosylmethionine (SAM) as the methyl donor

Therefore, it is suggested that the mutation of Asp240 (into Thr240 and Lys240) leads to the disturbance of the above described hydrogen-network, which ultimately affects the enzymes activity
2 Schrder CP, Skare O, Gjengedal E, Uppheim G, Reikers O, Brox JI

Global profiling of distinct cysteine redox forms reveals wide-ranging redox regulation in C

Sano K, Yosioka I, Kitagawa I
