min013's mutation [15 articles] Export

Recent papers added to min013's library classified by the tag mutation. You can also see everyone's mutation.

	CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene. [My Copy] Human mutation, Vol. 27, No. 9. (September 2006) by B. C. Murphy, C. R. Scriver, S. M. Singh posted to hpah mutation pku by min013 on 2009-02-23 08:43:08 as
	Connecting Mutant Phenylalanine Hydroxylase With Phenylketonuria [My Copy] Journal of Clinical Monitoring and Computing, Vol. 22, No. 5. (1 October 2008), pp. 333-342. by Shaomin Yan, Guang Wu posted to mutation pku by min013 on 2009-02-20 21:27:39 as
	Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. [My Copy] Journal of inherited metabolic disease (21 October 2008) by S F. Dobrowolski, A L. Pey, R Koch, et al.H Levy, C C. Ellingson, E W. Naylor, A Martinez posted to hpah mutation pku by min013 on 2008-10-26 15:34:33 as
	Effect of mutations at Cys237 on the activation state and activity of human phenylalanine hydroxylase. [My Copy] FEBS letters, Vol. 409, No. 1. (2 June 1997), pp. 7-11. by P. M. Knappskog, A. Martínez posted to activation hpah mutation by min013 on 2008-10-26 14:50:26 as
	PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. [My Copy] Human mutation, Vol. 8, No. 3. (1996), pp. 236-246. by P. M. Knappskog, H. G. Eiken, A. Martínez, O. Bruland, J. Apold, T. Flatmark posted to hpah mutation pah pku by min013 on 2008-04-24 09:02:58 as
	Regulation of phenylalanine biosynthesis. Studies on the mechanism of phenylalanine binding and feedback inhibition in the Escherichia coli P-protein. [My Copy] Biochemistry, Vol. 38, No. 38. (21 September 1999), pp. 12212-12217. by G. Pohnert, S. Zhang, A. Husain, D. B. Wilson, B. Ganem posted to itc mutation pah p-protein by min013 on 2008-04-23 14:12:55 as
	Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli. [My Copy] Advances in experimental medicine and biology, Vol. 338 (1993), pp. 59-62. by M. Knappskog, H. G. Eiken, A. Martinez, et al.S. Olafsdotti, J. Haavik, T. Flatmark, J. Apold posted to hpah mutation pah by min013 on 2008-04-23 13:33:14 as
	Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme. [My Copy] European journal of biochemistry / FEBS, Vol. 242, No. 3. (15 December 1996), pp. 813-821. by P. M. Knappskog, T. Flatmark, J. M. Aarden, J. Haavik, A. Martínez posted to binding cooperativity hpah mutation pah by min013 on 2008-04-23 13:18:32 as
	In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation. [My Copy] Molecular genetics and metabolism, Vol. 72, No. 2. (February 2001), pp. 132-143. by T. Gjetting, M. Petersen, P. Guldberg, F. Güttler posted to hpah mutation pah by min013 on 2008-04-23 13:17:11 as
	Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys237. [My Copy] Biochemistry, Vol. 42, No. 12. (1 April 2003), pp. 3419-3428. by M. Thórólfsson, K. Teigen, A. Martínez posted to hpah mutation pah by min013 on 2008-04-23 13:14:50 as
	Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. [My Copy] Proceedings of the National Academy of Sciences of the United States of America, Vol. 101, No. 48. (30 November 2004), pp. 16903-16908. by H. Erlandsen, A. L. Pey, A. Gámez, et al.B. Pérez, L. R. Desviat, C. Aguado, R. Koch, S. Surendran, S. Tyring, R. Matalon, C. R. Scriver, M. Ugarte, A. Martínez, R. C. Stevens posted to hpah mutation pah by min013 on 2008-04-23 13:13:10 as along with 1 person kharina
	Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. [My Copy] Human mutation, Vol. 24, No. 5. (November 2004), pp. 388-399. by A. L. Pey, B. Pérez, L. R. Desviat, et al.M. A. Martínez, C. Aguado, H. Erlandsen, A. Gámez, R. C. Stevens, M. Thórólfsson, M. Ugarte, A. Martínez posted to hpah itc mutation pah by min013 on 2008-04-23 13:12:05 as
	The active site residue tyrosine 325 influences iron binding and coupling efficiency in human phenylalanine hydroxylase. [My Copy] Journal of inorganic biochemistry, Vol. 99, No. 6. (June 2005), pp. 1320-1328. by F. F. Miranda, M. Kolberg, K. K. Andersson, C. F. Geraldes, A. Martínez posted to hpah mutation pah by min013 on 2008-04-23 13:06:19 as
	Structural characterization of the N-terminal autoregulatory sequence of phenylalanine hydroxylase. [My Copy] Protein science : a publication of the Protein Society, Vol. 11, No. 8. (August 2002), pp. 2041-2047. by J. Horne, I. G. Jennings, T. Teh, P. R. Gooley, B. Kobe posted to ars mutation pah by min013 on 2008-04-23 13:03:56 as
	The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. [My Copy] Mutation research, Vol. 601, No. 1-2. (10 October 2006), pp. 39-45. by H. U. Lüleyap, D. Alptekin, A. Pazarbaşi, et al.M. Kasap, H. Kasap, H. Demirhindi, N. Mungan, G. Ozer, U. G. Froster posted to evolution hpah mutation pah by min013 on 2008-04-23 12:59:22 as

Note: You may cite this page as: http://www.citeulike.org/user/min013/tag/mutation

pah	37
bacterial	29
hpah	27
pku	20
binding	17
itc	16
mutation	15
dsc	13
melanin	12
homogentisate	11
legionella	9
regulation	9
violaceum	7
aaah	6
cold-adaptation	6
evolution	6
expression	6
review	6
bacteria	5
bh4	5
paeruginosa	5
q-pcr	5
act	4
celegans	4
colwellia	4
dictyostelium	4
rat	4
structure	4
virulence	4
cdc6	3
chlamydia	3
glucokinase	3
irreversible	3
mutagenesis	3
rbs	3
rnai	3
rt-pcr	3
treatment	3
barophilic	2
biofilm	2
cd	2
cooperativity	2
deamidation	2
drosophila	2
ecoli	2
folding	2
genome	2
journal_club	2
ligand	2
l-phenylalanine	2
mammalian	2
method	2
modelling	2
pharmacologic	2
pigment	2
psycrophile	2
vibrio	2
activation	1
adaptation	1
affinity	1
afm	1
alkaptonuria	1
angel	1
antivirulence	1
ars	1
chaperones	1
cloning	1
cyanobacterium	1
dnarepair	1
dsf	1
excoefficient	1
fplc	1
fungal	1
fusion	1
gene	1
growth	1
henna	1
information	1
inhibition	1
inhibitor	1
iron	1
legiolysin	1
luddig	1
mbp	1
membranes	1
misfolding	1
molten_globule	1
monomeric	1
mosquito	1
mouse	1
mousepah	1
mutual	1
n415d	1
pal	1
phagocyte	1
phenylalanine	1
phhr	1
p-protein	1
pseudomonas	1
pyomelanin	1
rescue	1
rnase	1
sapropterin	1
solubility	1
s-oxygenation	1
sponge	1
stabilize	1
terreactant	1
tetrahydropterin	1
tetrameric	1
th	1
tyra	1
tyrr	1
vitiligo	1

min013's mutation [15 articles] Export

min013's tags