U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief


A selection of recent and significant publications can be viewed below.

Marx SJ. Uncoupling of Secretion From Growth in Some Hormone Secretory Tissues. J Clin Endocrinol Metab. 2014 Jul 8; 99 (99; 2014 Jul 8; 11):4051-4059. [Full Text/Abstract]
Sinha P, Aarnisalo P, Chubb R, Ono N, Fulzele K, Selig M, Saeed H, Chen M, Weinstein LS, Pajevic PD, Kronenberg HM, Wu JY. Loss of Gs α Early in the Osteoblast Lineage Favors Adipogenic Differentiation of Mesenchymal Progenitors and Committed Osteoblast Precursors. J Bone Miner Res. 2014 May 7; 29 (2014 May 7; 29; 11):2414-2426. [Full Text/Abstract]
Chagin AS, Vuppalapati KK, Kobayashi T, Guo J, Hirai T, Chen M, Offermanns S, Weinstein LS, Kronenberg HM. G-protein stimulatory subunit alpha and Gq/11α G-proteins are both required to maintain quiescent stem-like chondrocytes. Nat Commun. 2014 Apr 30; 5 (2014 Apr 30; 5):3673. [Full Text/Abstract]
Wang Z, Fan M, Candas D, Zhang TQ, Qin L, Eldridge A, Wachsmann-Hogiu S, Ahmed KM, Chromy BA, Nantajit D, Duru N, He F, Chen M, Finkel T, Weinstein LS, Li JJ. Cyclin B1/Cdk1 Coordinates Mitochondrial Respiration for Cell-Cycle G2/M Progression. Dev Cell. 2014 Apr 28; 29 (2; 2014 Apr 28; 29):217-32. [Full Text/Abstract]
Gluick T, Yuan Z, Libutti SK, Marx SJ. Mutations in CDKN2C (p18) and CDKN2D (p19) may cause sporadic parathyroid adenoma. Endocr Relat Cancer. 2013 Dec; 20 (20; 6; 2013 Dec):L27-9. [Full Text/Abstract]
Nilubol N, Weisbrod AB, Weinstein LS, Simonds WF, Jensen RT, Phan GQ, Hughes MS, Libutti SK, Marx S, Kebebew E. Utility of intraoperative parathyroid hormone monitoring in patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism undergoing initial parathyroidectomy. World J Surg. 2013 Aug; 37 (8; 2013 Aug; 37):1966-72. [Full Text/Abstract]
Marx SJ. Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management. J Clin Endocrinol Metab. 2013 Aug; 98 (8; 98; 2013 Aug):3139-48. [Full Text/Abstract]
Chen M, Berger A, Kablan A, Zhang J, Gavrilova O, Weinstein LS. Gsα deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with Gsα mutations. Endocrinology. 2012 Sep; 153 (153; 2012 Sep; 9):4256-65. [Full Text/Abstract]
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2012 Sep; 97 (2012 Sep; 97; 9):3025-30. [Full Text/Abstract]
Simonds WF, Varghese S, Marx SJ, Nieman LK. Cushing's syndrome in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2012 Mar; 76 (76; 2012 Mar; 3):379-86. [Full Text/Abstract]
Zhang JH, Pandey M, Seigneur EM, Panicker LM, Koo L, Schwartz OM, Chen W, Chen CK, Simonds WF. Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice. J Neurochem. 2011 Nov; 119 (2011 Nov; 119; 3):544-54. [Full Text/Abstract]
Chen M, Mema E, Kelleher J, Nemechek N, Berger A, Wang J, Xie T, Gavrilova O, Drucker DJ, Weinstein LS. Absence of the glucagon-like peptide-1 receptor does not affect the metabolic phenotype of mice with liver-specific G(s)α deficiency. Endocrinology. 2011 Sep; 152 (2011 Sep; 152; 9):3343-50. [Full Text/Abstract]
Chen M, Nemechek NM, Mema E, Wang J, Weinstein LS. Effects of deficiency of the G protein Gsα on energy and glucose homeostasis. Eur J Pharmacol. 2011 Jun 11; 660 (660; 2011 Jun 11; 1):119-24. [Full Text/Abstract]
Sharretts JM, Kebebew E, Simonds WF. Parathyroid cancer. Semin Oncol. 2010 Dec; 37 (6; 2010 Dec; 37):580-90. [Full Text/Abstract]
Xie T, Chen M, Weinstein LS. Pancreas-specific Gsalpha deficiency has divergent effects on pancreatic alpha- and beta-cell proliferation. J Endocrinol. 2010 Sep; 206 (206; 2010 Sep; 3):261-9. [Full Text/Abstract]
Sharretts JM, Simonds WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab. 2010 Jun; 24 (2010 Jun; 3; 24):491-502. [Full Text/Abstract]
Panicker LM, Zhang JH, Posokhova E, Gastinger MJ, Martemyanov KA, Simonds WF. Nuclear localization of the G protein beta 5/R7-regulator of G protein signaling protein complex is dependent on R7 binding protein. J Neurochem. 2010 Jun; 113 (113; 2010 Jun; 5):1101-12. [Full Text/Abstract]
Panicker LM, Zhang JH, Dagur PK, Gastinger MJ, Simonds WF. Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. Endocr Relat Cancer. 2010 Jun; 17 (2010 Jun; 2; 17):513-24. [Full Text/Abstract]
Chen M, Chen H, Nguyen A, Gupta D, Wang J, Lai EW, Pacak K, Gavrilova O, Quon MJ, Weinstein LS. G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis. Cell Metab. 2010 Apr 7; 11 (2010 Apr 7; 4; 11):320-30. [Full Text/Abstract]
Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D, Lai EW, Pacak K, Gavrilova O, Weinstein LS. Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab. 2009 Jun; 9 (6; 9; 2009 Jun):548-55. [Full Text/Abstract]
Adams GB, Alley IR, Chung UI, Chabner KT, Jeanson NT, Lo Celso C, Marsters ES, Chen M, Weinstein LS, Lin CP, Kronenberg HM, Scadden DT. Haematopoietic stem cells depend on Galpha(s)-mediated signalling to engraft bone marrow. Nature. 2009 May 7; 459 (2009 May 7; 459; 7243):103-7. [Full Text/Abstract]
Agarwal SK, Mateo CM, Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009 May; 94 (94; 5; 2009 May):1826-34. [Full Text/Abstract]
Chen M, Feng HZ, Gupta D, Kelleher J, Dickerson KE, Wang J, Hunt D, Jou W, Gavrilova O, Jin JP, Weinstein LS. G(s)alpha deficiency in skeletal muscle leads to reduced muscle mass, fiber-type switching, and glucose intolerance without insulin resistance or deficiency. Am J Physiol Cell Physiol. 2009 Apr; 296 (2009 Apr; 296; 4):C930-40. [Full Text/Abstract]
Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM. Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop. J Clin Endocrinol Metab. 2009 Feb; 94 (2009 Feb; 94; 2):340-50. [Full Text/Abstract]
Lin L, Zhang JH, Panicker LM, Simonds WF. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. Proc Natl Acad Sci U S A. 2008 Nov 11; 105 (105; 2008 Nov 11; 45):17420-5. [Full Text/Abstract]
Xie T, Chen M, Gavrilova O, Lai EW, Liu J, Weinstein LS. Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region. Endocrinology. 2008 May; 149 (149; 2008 May; 5):2443-50. [Full Text/Abstract]
Xie T, Chen M, Zhang QH, Ma Z, Weinstein LS. Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes. Proc Natl Acad Sci U S A. 2007 Dec 4; 104 (104; 49; 2007 Dec 4):19601-6. [Full Text/Abstract]
Weinstein LS, Xie T, Zhang QH, Chen M. Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology. Pharmacol Ther. 2007 Aug; 115 (2007 Aug; 2; 115):271-91. [Full Text/Abstract]
Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J Clin Endocrinol Metab. 2007 May; 92 (2007 May; 92; 5):1948-51. [Full Text/Abstract]
Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. 2007 Mar; 92 (92; 3; 2007 Mar):1073-9. [Full Text/Abstract]
Agarwal SK, Impey S, McWeeney S, Scacheri PC, Collins FS, Goodman RH, Spiegel AM, Marx SJ. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. Neoplasia. 2007 Feb; 9 (2; 9; 2007 Feb):101-7. [Full Text/Abstract]
Xie T, Plagge A, Gavrilova O, Pack S, Jou W, Lai EW, Frontera M, Kelsey G, Weinstein LS. The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J Biol Chem. 2006 Jul 14; 281 (2006 Jul 14; 28; 281):18989-99. [Full Text/Abstract]
Chen M, Gavrilova O, Zhao WQ, Nguyen A, Lorenzo J, Shen L, Nackers L, Pack S, Jou W, Weinstein LS. Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency. J Clin Invest. 2005 Nov; 115 (2005 Nov; 115; 11):3217-27. [Full Text/Abstract]
Marx SJ, Simonds WF. Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev. 2005 Aug; 26 (5; 26; 2005 Aug):615-61. [Full Text/Abstract]
Sakamoto A, Chen M, Nakamura T, Xie T, Karsenty G, Weinstein LS. Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone. J Biol Chem. 2005 Jun 3; 280 (280; 22; 2005 Jun 3):21369-75. [Full Text/Abstract]
Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, Nackers LM, Lorenzo J, Shen L, Weinstein LS. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci U S A. 2005 May 17; 102 (2005 May 17; 20; 102):7386-91. [Full Text/Abstract]
Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May; 5 (2005 May; 5):367-75. [Full Text/Abstract]
Liu J, Chen M, Deng C, Bourc'his D, Nealon JG, Erlichman B, Bestor TH, Weinstein LS. Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci U S A. 2005 Apr 12; 102 (102; 2005 Apr 12; 15):5513-8. [Full Text/Abstract]
Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS. Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res. 2005 Apr; 20 (20; 2005 Apr; 4):663-71. [Full Text/Abstract]
Liu J, Nealon JG, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005 Jan 1; 14 (14; 2005 Jan 1; 1):95-102. [Full Text/Abstract]
Scacheri PC, Crabtree JS, Kennedy AL, Swain GP, Ward JM, Marx SJ, Spiegel AM, Collins FS. Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm Genome. 2004 Nov; 15 (2004 Nov; 15; 11):872-7. [Full Text/Abstract]
Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A. 2004 Oct 12; 101 (2004 Oct 12; 101; 41):14794-9. [Full Text/Abstract]
Simonds WF, Woodard GE, Zhang JH. Assays of nuclear localization of R7/Gbeta5 complexes. Methods Enzymol. 2004; 390 (390; 2004):210-23. [Full Text/Abstract]
Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2004 Jan; 89 (2004 Jan; 1; 89):96-102. [Full Text/Abstract]
Weinstein LS, Simonds WF. HRPT2, a marker of parathyroid cancer. N Engl J Med. 2003 Oct 30; 349 (2003 Oct 30; 349; 18):1691-2. [Full Text/Abstract]
Agarwal SK, Novotny EA, Crabtree JS, Weitzman JB, Yaniv M, Burns AL, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci U S A. 2003 Sep 16; 100 (100; 19; 2003 Sep 16):10770-5. [Full Text/Abstract]
Crabtree JS, Scacheri PC, Ward JM, McNally SR, Swain GP, Montagna C, Hager JH, Hanahan D, Edlund H, Magnuson MA, Garrett-Beal L, Burns AL, Ried T, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. Of mice and MEN1: Insulinomas in a conditional mouse knockout. Mol Cell Biol. 2003 Sep; 23 (2003 Sep; 23; 17):6075-85. [Full Text/Abstract]
Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003 Sep; 88 (2003 Sep; 9; 88):4336-41. [Full Text/Abstract]
Simonds WF. G protein-regulated signaling dysfunction in human disease. J Investig Med. 2003 Jul; 51 (4; 2003 Jul; 51):194-214. [Full Text/Abstract]
Rojkova AM, Woodard GE, Huang TC, Combs CA, Zhang JH, Simonds WF. Ggamma subunit-selective G protein beta 5 mutant defines regulators of G protein signaling protein binding requirement for nuclear localization. J Biol Chem. 2003 Apr 4; 278 (14; 278; 2003 Apr 4):12507-12. [Full Text/Abstract]
Marx SJ, Wells SA Jr., Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Elsevier Saunders. Multiple Endocrine Neoplasia. Chapter 41. Williams Textbook of Endocrinology 12th Edition. Ed. [Full Text/Abstract]
Arnold A, Marx SJ., Rosen C, et al. Wiley-Blackwell, John Wiley & Sons, Inc. 553-561, 2013. Familial hyperparathyroidism (Including MEN, FHH, and HPT-JT). Primer on the Metabolic Bone Diseases and Mineral Metabolism 8th Edition. Ed. [Full Text/Abstract]