Deficient activity of the guanine nucleotide regulatory protein (G unit), an integral component of the membrane-bound adenylate cyclase complex, has been implicated as the biochemical lesion in many patients with pseudohypoparathyroidism (PHP) type I. In addition to renal resistance to parathyroid hormone in this disorder, there is decreased responsiveness of diverse tissues to hormones that act via 3',5'-cyclic AMP (cAMP). To assess whether a deficiency of G units could account for impaired adenylate cyclase activity, we studied cAMP production in intact cultured fibroblasts and fibroblast plasma membranes from five patients with PHP in response to several activators of adenylate cyclase.
Michael A. Levine, Charles Eil, Robert W. Downs Jr., Allen M. Spiegel
Title and authors | Publication | Year |
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Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment
Menevse TS, Iwasaki Y, Abali ZY, Tosun BG, Helvacioglu D, Dogru Ö, Bugdayci O, Cyr SM, Guran T, Bereket A, Bastepe M, Turan S |
Hormone Research in Paediatrics | 2023 |
Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications
P McMullan, E Germain-Lee |
Current Osteoporosis Reports | 2022 |
Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy
P McMullan, P Maye, Q Yang, D Rowe, E GermainLee |
JBMR Plus | 2021 |
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations
PC Hanley, HS Kanwar, C Martineau, MA Levine |
The Journal of clinical endocrinology and metabolism | 2020 |
Management of pseudohypoparathyroidism:
EL Germain-Lee |
Current Opinion in Pediatrics | 2019 |
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI
P Salemi, JM Olson, LE Dickson, EL Germain-Lee |
The Journal of clinical endocrinology and metabolism | 2017 |
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS
A Usardi, A Mamoune, E Nattes, JC Carel, A Rothenbuhler, A Linglart |
The Journal of clinical endocrinology and metabolism | 2017 |
Endocrinology: Adult and Pediatric
M Gurnell, TJ Visser, P Beck-Peccoz, VK Chatterjee |
Endocrinology: Adult and Pediatric | 2016 |
Endocrinology
C Napier, SH Pearce |
Endocrinology | 2016 |
GNAS Spectrum of Disorders
S Turan, M Bastepe |
Current Osteoporosis Reports | 2015 |
Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism
H Jüppner |
Annales d'Endocrinologie | 2015 |
Reference Module in Biomedical Sciences
DL Sackett, RB Haynes |
2014 | |
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene
Serap Turan, Murat Bastepe |
2013 | |
Methods in Enzymology
JD Stone, AS Chervin, DH Aggen, DM Kranz |
Protein Engineering for Therapeutics Part B | 2012 |
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy
DL Huso, S Edie, MA Levine, W Schwindinger, Y Wang, H Jüppner, EL Germain-Lee |
PloS one | 2011 |
Fetal and Neonatal Physiology
LH Johnson, VK Bhutani |
Fetal and Neonatal Physiology | 2011 |
Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy
DL Huso, S Edie, MA Levine, W Schwindinger, Y Wang, H Jüppner, EL Germain-Lee, F Beier |
PloS one | 2011 |
Principles of Bone Biology
CJ Rosen, T Niu |
Principles of Bone Biology | 2008 |
Compound Heterozygous Mutations in the GNAS Gene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State
K Freson, B Izzi, J Jaeken, MV Helvoirt, C Thys, C Wittevrongel, F de Zegher, CV Geet |
The Journal of clinical endocrinology and metabolism | 2008 |
Advances in Enzymology - and Related Areas of Molecular Biology
H Waelsch |
Advances in Enzymology and Related Areas of Molecular Biology | 2006 |
A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families
O Haskin, L Lazar, L Jaber, R Salvatori, M Alba, L Kornreich, M Phillip, G Gat-Yablonski |
Journal of Endocrinological Investigation | 2006 |
The Pseudohypoparathyroidism Type 1b Locus Is Linked to a Region Including GNAS1 at 20q13.3
SM de Beur, JR O'Connell, R Peila, J Cho, Z Deng, S Kam, MA Levine |
Journal of Bone and Mineral Research | 2003 |
Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1
SJ de Beur, C Ding, E Germain-Lee, J Cho, A Maret, MA Levine |
The American Journal of Human Genetics | 2003 |
Decreased Expression of the GHRH Receptor Gene Due to a Mutation in a Pit-1 Binding Site
R Salvatori, X Fan, PE Mullis, A Haile, MA Levine |
Molecular Endocrinology | 2002 |
Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene
R Salvatori, X Fan, JA Phillips, M Prince, MA Levine |
Clinical Endocrinology | 2001 |
Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas
R Salvatori, RV Thakker, MB Lopes, X Fan, JR Eswara, D Ellison, P Lees, B Harding, I Yang, MA Levine |
Clinical Endocrinology | 2001 |
The Parathyroids
SJ Marx |
The Parathyroids | 2001 |
Endocrine Manifestations of Stimulatory G Protein α-Subunit Mutations and the Role of Genomic Imprinting
LS Weinstein, S Yu, DR Warner, J Liu |
Endocrine reviews | 2001 |
Deficiency of the α-Subunit of the Stimulatory G Protein and Severe Extraskeletal Ossification
MC Eddy, SM de beur, SM Yandow, WH McAlister, EM Shore, FS Kaplan, MP Whyte, MA Levine |
Journal of Bone and Mineral Research | 2000 |
Selective Resistance to Parathyroid Hormone Caused by a Novel Uncoupling Mutation in the Carboxyl Terminus of Gα s: A CAUSE OF PSEUDOHYPOPARATHYROIDISM TYPE Ib
WI Wu, WF Schwindinger, LF Aparicio, MA Levine |
The Journal of biological chemistry | 2000 |
Variable imprinting of the heterotrimeric G protein G s α-subunit within different segments of the nephron
LS Weinstein, S Yu, CA Ecelbarger |
American journal of physiology. Renal physiology | 2000 |
Pseudohypoparathyroidism 1b: Exclusion of Parathyroid Hormone and Its Receptors as Candidate Disease Genes1
SM de Beur, CL Ding, MC LaBuda, TB Usdin, MA Levine |
The Journal of clinical endocrinology and metabolism | 2000 |
The Role of Genomic Imprinting of Gsα in the Pathogenesis of Albright Hereditary Osteodystrophy
LS Weinstein, S Yu |
Trends in Endocrinology & Metabolism | 1999 |
Hormone Resistance Syndromes
JL Jameson |
1999 | |
Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy1
D Yu, S Yu, V Schuster, K Kruse, CL Clericuzio, LS Weinstein |
The Journal of clinical endocrinology and metabolism | 1999 |
G Proteins, Receptors, and Disease
AM Spiegel |
1998 | |
Reproductive Dysfunction in Women with Albright’s Hereditary Osteodystrophy1
AB Namnoum, GR Merriam, AM Moses, MA Levine |
The Journal of clinical endocrinology and metabolism | 1998 |
Targeted Disruption of Gnas in Embryonic Stem Cells*
WF Schwindinger, KJ Reese, AM Lawler, JD Gearhart, MA Levine |
Endocrinology | 1997 |
Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism
S Ish-Shalom, LG Rao, MA Levine, D Fraser, SW Kooh, RG Josse, R Mcbroom, MM Wong, TM Murray |
Journal of Bone and Mineral Research | 1996 |
Mutations of signal-transducing G proteins in human disease
P Schnabel, M Bhm |
Journal of Molecular Medicine | 1995 |
Differential expression of guanosine triphosphate binding proteins in men at high and low risk for the future development of alcoholism
GS Wand, C Waltman, CS Martin, ME McCaul, MA Levine, D Wolfgang |
Journal of Clinical Investigation | 1994 |
Molecular Endocrinology
FF Bolander |
Molecular Endocrinology | 1994 |
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
WF Schwindinger, A Miric, D Zimmerman, MA Levine |
The Journal of biological chemistry | 1994 |
Pseudohypoparathyroidism with osteitis fibrosa cystica: Direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone
TM Murray, LG Rao, MM Wong, JP Waddell, R McBroom, CS Tam, F Rosen, MA Levine |
Journal of Bone and Mineral Research | 1993 |
G protein mutations in human disease
LS Weinstein, A Shenker |
Clinical Biochemistry | 1993 |
Impaired β -adrenergic Receptor Activation of Adenylyl Cyclase in Airway Smooth Muscle in the Basenji-Greyhound Dog Model of Airway Hyperresponsiveness
C Emala, C Black, C Curry, MA Levine, CA Hirshman |
American journal of respiratory cell and molecular biology | 1993 |
Chronic ethanol treatment increases expression of inhibitory G-proteins and reduces adenylylcyclase activity in the central nervous system of two lines of ethanol-sensitive mice
GS Wand, AM Diehl, MA Levine, D Wolfgang, S Samy |
The Journal of biological chemistry | 1993 |
The effect of donor age on human fibroblast beta-adrenergic receptor response and agonist-induced desensitization
D Conlon, K O'Malley, SA Kilfeather |
Mechanisms of Ageing and Development | 1992 |
Abnormal response to a human B cell growth factor in patients with common variable immunodeficiency (CVI)
JL Ambrus, S Haneiwich, L Chesky, P McFarland, MG Peters, RJ Engler |
Journal of Allergy and Clinical Immunology | 1991 |
Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
JL Patten, DR Johns, D Valle, C Eil, PA Gruppuso, G Steele, PM Smallwood, MA Levine |
New England Journal of Medicine | 1990 |
Endocrine Function and Aging
HJ Armbrecht, RM Coe, N Wongsurawat |
1990 | |
Increase of the 40,000-mol wt pertussis toxin substrate (G protein) in the failing human heart
AM Feldman, AE Cates, WB Veazey, RE Hershberger, MR Bristow, KL Baughman, WA Baumgartner, CV Dop |
Journal of Clinical Investigation | 1988 |
Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy
MA Levine, TG Ahn, SF Klupt, KD Kaufman, PM Smallwood, HR Bourne, KA Sullivan, CV Dop |
Proceedings of the National Academy of Sciences | 1988 |
Inhibition of the proliferation of Nb2 cells by femtomolar concentrations of cholera toxin and partial reversal of the effect by 12-O-tetradecanoyl-phorbol-13-acetate
M Pines, A Ashkenazi, N Cohen-Chapnik, L Binder, A Gertler |
Journal of Cellular Biochemistry | 1988 |
Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia
A Carter, C Bardin, R Collins, C Simons, P Bray, A Spiegel |
Proceedings of the National Academy of Sciences | 1987 |
Characterization of soluble and particulate parathyroid hormone receptors using a biotinylated bioactive hormone analog
DP Brennan, MA Levine |
The Journal of biological chemistry | 1987 |
Olfactory dysfunction in humans with deficient guanine nucleotide-binding protein
RS Weinstock, HN Wright, AM Spiegel, MA Levine, AM Moses |
Nature | 1986 |
The Receptors
RG Rosenfeld, RL Hintz |
The Receptors | 1986 |
Membrane Association of Soluble Protein Activators of Rat Liver Adenylate Cyclase Evidence for Distinctness from the Guanine Nucleotide-binding Stimulating Protein (N S )
TM Kelly, MA Levine, MA Pineyro, RI Gregerman |
Endocrine Research | 1986 |
Clinical Endocrinology
A Labhart |
Clinical Endocrinology | 1986 |
Muscarinic receptors on intact human fibroblasts. Absence of receptor activity in adult skin cells
DA van Riper, MP Absher, RH Lenox |
Journal of Clinical Investigation | 1985 |
Clinical Implications of Guanine Nucleotide–Binding Proteins as Receptor–Effector Couplers
JS Flier, LH Underhill, AM Spiegel, P Gierschik, MA Levine, RW Downs |
New England Journal of Medicine | 1985 |
Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism
JA Heinsimer, AO Davies, RW Downs, MA Levine, AM Spiegel, MK Drezner, AD Lean, KA Wreggett, MG Caron, RJ Lefkowitz |
Journal of Clinical Investigation | 1984 |
Current Topics in Cellular Regulation
G Cahill, T Aoki, R Smith |
Current Topics in Cellular Regulation | 1981 |