Israel Hanukoglu, Ph.D.
Laboratory of Cell Biology
Ariel University
Ariel 40700, Israel

Publications on Epithelial Sodium Channels (ENaC) and Pseudohypoaldosteronism

NOTE: Full text REPRINTS of some recent publications are available below. Scroll down to see the hyperlinks.

(This is a PARTIAL list of publications of both Hanukoglu brothers, Aaron and Israel. For other topics select one of the options on the left side menu.)

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.
Hanukoglu A.
J Clin Endocrinol Metab 73:936-944, 1991. REPRINT

Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios.
Bistritzer T., Lahat E., Eshel G., Barr J., Hanukoglu A., and Aladjem M.
Pediatr Nephrol 10:438-441, 1996. REPRINT

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism.
Kerem E., Bistritzer T., Hanukoglu A., Hofmann T., Zhou Z., Bennett W., MacLaughlin E., Barker P., Nash M., Quittell L., Boucher R., and Knowles M. R.
N Engl J Med 341:156-162, 1999. REPRINT

Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
Hanukoglu A., Bistritzer T., Rakover Y., and Mandelberg, A.
J Pediatr 125:752-755, 1994. REPRINT

Inheritance of pseudohypoaldosteronism.
Hanukoglu A., Fried D., and Gotlieb A.
Lancet 1:1359-1359, 1978. REPRINT

Growth hormone activates renin-aldosterone system in children with idiopathic short stature and in a pseudohypoaldosteronism patient with a mutation in epithelial sodium channel alpha subunit.
Hanukoglu A., Belutserkovsky O., Phillip M.
J Steroid Biochem Mol Biol 77:49-57, 2001. REPRINT

Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
Chung E., Hanukoglu A., Rees M., Thompson R., Dillon M., Hanukoglu I., Bistritzer T., Kuhnle U., Seckl J., and Gardiner R.M.
J Clin Endocrinol Metab 80:3341-3345, 1995. REPRINT

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.
Strautnieks S. S., Thompson R. J., Hanukoglu A., Dillon M.J., Hanukoglu I., Kuhnle U., Seckl J., Gardiner R. M., and Chung E.
Hum Mol Genet 5:293-299, 1996. REPRINT

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.
Chang S.S., Grunder S., Hanukoglu A., Rosler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C., Rossier B.C., and Lifton R.P.
Nat Genet 12:248-253, 1996. REPRINT

Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone.
Hanukoglu A., Joy O., Steinitz M., Rosler A., and Hanukoglu I.
J Steroid Biochem Mol Biol 60:105-112, 1997. REPRINT

Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.
Saxena A., Hanukoglu I., Strautnieks S.S., Thompson R.J., Gardiner R.M., and Hanukoglu A.
Biochem Biophys Res Commun 252:208-213, 1998. REPRINT

• Aldosterone unresponsiveness (pseudohypoaldosteronism) results from mutations in epithelial sodium channel subunits [conference].
Hanukoglu A., Saxena A., Gardiner R.M., and Hanukoglu I.
Molecular Steroidogenesis (M. Okamoto, Y. Ishimura, H. Nawata, eds.), Universal Academy Press, Tokyo, Japan, pp. :369-370, 2000.

• Aldosterone insensitivity syndromes (pseudohypoaldosteronism): from clinic to molecular biology of sodium transport.
Hanukoglu A., Saxena A., and Hanukoglu I.
Pol J Endocrinol 52 (Suppl. 1):27-37, 2001.

Amiloride-sensitive epithelial sodium channel (ENaC) subunits are expressed in human and mussel immunocytes.
Ottaviani E., Franchini A., Mandrioli M., Saxena A., Hanukoglu A., Hanukoglu I.
Dev Comp Immunol 26:395-402, 2002. REPRINT

Novel mutations responsible for autosomal recessive multi-system pseudohypoaldosteronism and sequence variants in Epithelial Sodium Channel (ENaC) alpha, beta and gamma subunit genes.
Saxena A., Hanukoglu I., Saxena D., Thompson R. J., Gardiner R.M., and Hanukoglu A.
J Clin Endocrinol Metab 87:3344-3350, 2002. REPRINT

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multi-system pseudohypoaldosteronism (Review).
Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakok M., Zajaczek S., Hanukoglu A.
Clin Endocrinol. 62:547-553, 2005. REPRINT

Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
Hanukoglu A., Edelheit O., Shriki Y., Gizewska M., Dascal N., Hanukoglu I.
J Steroid Biochem Mol Biol 111:268-274, 2008. REPRINT

Simple and efficient site-directed mutagenesis using two single-primer reactions in parallel to generate mutants for protein structure-function studies.
Edelheit O., Hanukoglu A., and Hanukoglu I.
BMC Biotechnology 9:61, 2009. REPRINT

Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.
Edelheit O., Hanukoglu I., Shriki Y., Tfilin M., Dascal N., Gillis, D., Hanukoglu A.
J Steroid Biochem Mol Biol 119:84-88, 2010. REPRINT

Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation.
Hanukoglu A., Hanukoglu I.
Clin Exp Nephrol 14:518-519, 2010. REPRINT

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Muhammad E., Leventhal N., Parvari G., Hanukoglu A., Hanukoglu I., Chalifa-Caspi V., Feinstein Y., Weinbrand J., Jacoby H., Manor E., Nagar T., Beck J.C., Sheffield V.C., Hershkovitz E., Parvari R.
Hum Genet 129:397-405, 2011. DOI

Identification of the roles of conserved charged residues in the extracellular domain of epithelial sodium channel (ENaC) subunit by alanine mutagenesis.
Edelheit O., Hanukoglu I., Dascal N., Hanukoglu A.
Am J Physiol Renal Physiol 300:F887-F897, 2011. REPRINT

Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.
Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.
Histochem Cell Biol 137:339-353, 2012. REPRINT

Conserved charged residues at the surface and interface of epithelial sodium channel (ENaC) subunits: roles in cell surface expression and Na+ self-inhibition response.
Edelheit O., Ben-Shahar R., Dascal N., Hanukoglu A., Hanukoglu I.
FEBS J 281:2097-2111, 2014. REPRINT

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I., Hanukoglu A.
Gene 579:95-132, 2016. REPRINT

Gene Wiki Reviews-Raising the quality and accessibility of information about the human genome.
Tsueng G., Good B.M., Ping P., Golemis E., Hanukoglu I., van Wijnen A.J., Su A.I.
Gene 592:235-238, 2016. REPRINT

ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters.
Hanukoglu I.
FEBS J 284:525-545, 2017. REPRINT

Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.
Hanukoglu I., Boggula V.R., Vaknine H., Sharma S., Kleyman T., Hanukoglu A.
Histochem Cell Biol 147:733–748, 2017. REPRINT

The concise guide to pharmacology: Overview.
Alexander SP, Kelly E, Marrion NV et al.
Br J Pharmacol 174:Suppl. 1: S1-S16, 2017. DOI

Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa.
Sharma S., Hanukoglu A., Hanukoglu I.
J Mol Histol 49:195-208, 2018. REPRINT

In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient.
Hanukoglu A., Hanukoglu I.
Clin Endocrinol. 89:240-241, 2018. REPRINT

Expression of the epithelial sodium channel (ENaC) in the endometrium – implications for fertility in a patient with pseudohypoaldosteronism.
Boggula V.R., Hanukoglu I., Sagiv R., Enuka Y., Hanukoglu A.
J Steroid Biochem Mol Biol 183:137-141, 2018. REPRINT

Mapping the sites of localization of epithelial sodium channel (ENaC) and CFTR in segments of the mammalian epididymis.
Sharma S., Hanukoglu I.
J Mol Histol 50:141–154, 2019. DOI