Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene ( PHKB )

1997 ◽  
Vol 101 (2) ◽  
pp. 170-174 ◽  
Author(s):  
Barbara Burwinkel ◽  
Shimon W. Moses ◽  
M. W. Kilimann
Keyword(s):  
Missense Mutation ◽  
Blood Cells ◽  
Phosphorylase Kinase ◽  
Β Subunit ◽  
Subunit Gene ◽  
Biochemical Phenotype

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

1994 ◽  
Vol 7 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Andreas Gal ◽  
Ulrike Orth ◽  
Wolfgang Baehr ◽  
Eberhard Schwinger ◽  
Thomas Rosenberg
Keyword(s):  
Missense Mutation ◽  
Night Blindness ◽  
Autosomal Dominant ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase ◽  
Heterozygous Missense Mutation

The chorionic gonadotropin β-subunit gene is controlled by Pitx1 and Egr1

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
A Henke ◽  
M Simoni ◽  
E Nieschlag ◽  
J Gromoll
Keyword(s):  
Chorionic Gonadotropin ◽  
Β Subunit ◽  
Subunit Gene

Cloning and Analyzing of G-protein β-Subunit Gene in Rhizoctonia solani Causing Soybean Sharp Eyespot

2009 ◽  
Vol 35 (2) ◽  
pp. 370-374
Author(s):  
Bing-Tian MA ◽  
Guang-Lin QU ◽  
Wen-Juan HUANG ◽  
Yu-Fan LIN ◽  
Shi-Gui LI
Keyword(s):  
Rhizoctonia Solani ◽  
G Protein ◽  
Β Subunit ◽  
Subunit Gene ◽  
Sharp Eyespot

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

2020 ◽  
Vol 13 (12) ◽  
pp. e236152
Author(s):  
Naveen Parkash Gupta ◽  
Vinita Verma ◽  
Saurabh Chopra ◽  
Vivek Choudhury
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Genetic Predisposition ◽  
Seizure Disorder ◽  
Β Subunit ◽  
Tonic Spasm ◽  
Initial Improvement ◽  
External Stimuli ◽  
Neurodevelopment Outcome

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

Influence of thyroid hormones on the human ATP synthase β-subunit gene promoter

1996 ◽  
Vol 154 (2) ◽  
pp. 107-111 ◽  
Author(s):  
Immaculada Martin ◽  
Josep A. Villena ◽  
Marta Giralt ◽  
Roser Iglesias ◽  
Teresa Mampel ◽  
...  
Keyword(s):  
Thyroid Hormones ◽  
Atp Synthase ◽  
Gene Promoter ◽  
Β Subunit ◽  
Subunit Gene

scholarly journals Neural regulation of the formation of skeletal muscle phosphorylase kinase holoenzyme in adult and developing rat muscle

1997 ◽  
Vol 325 (3) ◽  
pp. 793-800 ◽  
Author(s):  
Dean C. NG ◽  
Richard C. CARLSEN ◽  
Donal A. WALSH
Keyword(s):  
Skeletal Muscle ◽  
Muscle Development ◽  
Rapid Decline ◽  
Phosphorylase Kinase ◽  
Β Subunit ◽  
Subunit Protein ◽  
Subunit Mrna ◽  
Γ Subunit ◽  
Muscle Phosphorylase ◽  
Denervated Muscles

Neural influences on the co-ordination of expression of the multiple subunits of skeletal muscle phosphorylase kinase and their assembly to form the holoenzyme complex, α4β4γ4δ4, have been examined during denervation and re-innervation of adult skeletal muscle and during neonatal muscle development. Denervation of the tibialis anterior and extensor digitorum longus muscles of the rat hindlimb was associated with a rapid decline in the mRNA for the γ subunit, and an abrupt decrease in γ-subunit protein. The levels of the α- and β-subunit proteins in the denervated muscles also declined rapidly, their time course of reduction being similar to that for the γ-subunit protein, but they did not decrease to the same extent. In contrast with the rapid decline in γ-subunit mRNA upon denervation, α- and β-subunit mRNAs stayed at control innervated levels for approx. 8–10 days, but then decreased rapidly. Their decline coincided very closely with the onset of re-innervation. Re-innervation of the denervated muscles, which occurs rapidly and uniformly after the sciatic nerve crush injury, produced an eventual slow and prolonged recovery of the mRNA for all three subunits and parallel increases in each of the subunit proteins. A similar co-ordinated increase of both subunit mRNA and subunit proteins of the phosphorylase kinase holoenzyme was observed during neonatal muscle development, during the period when the muscles were attaining their adult pattern of motor activity. The phosphorylase kinase holoenzyme remains in a non-activated form during all of these physiological changes, as is compatible with the presence of the full complement of the regulatory subunits. These data are consistent with a model whereby the transcriptional and translational expression of phosphorylase kinase γ subunit occurs only with concomitant expression of the α and β subunits. This would ensure that free and unregulated, activated γ subunit alone, which would give rise to unregulated glycogenolysis, is not produced. The data also suggest that control of phosphorylase kinase subunit expression and the formation of the holoenzyme in skeletal muscle is provided by the motor nerve, probably through imposed levels or patterns of muscle activity.

Branched chain α-keto acid dehydrogenase, E1-β subunit gene is associated with premature ovarian failure

2008 ◽  
Vol 89 (3) ◽  
pp. 728-731 ◽  
Author(s):  
HyunJun Kang ◽  
Seung Ku Lee ◽  
Sung-Won Cho ◽  
Sook-Hwan Lee ◽  
KyuBum Kwack
Keyword(s):  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Keto Acid ◽  
Β Subunit ◽  
Subunit Gene ◽  
Acid Dehydrogenase ◽  
Branched Chain
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