Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

Silvia Dossena; Valeria Vezzoli; Nadia Cerutti; Claudia Bazzini; Marisa Tosco; Chiara Sironi; Simona Rodighiero; Giuliano Meyer; Umberto Fascio; Johannes Fürst; Markus Ritter; Laura Fugazzola; Luca Persani; Patrick Zorowka; Carlo Storelli; Paolo Beck-Peccoz; Guido Bottà; Markus Paulmichl

doi:10.1159/000094137

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

Silvia Dossena (First author)
, Valeria Vezzoli
, Nadia Cerutti
, Claudia Bazzini
, Marisa Tosco
, Chiara Sironi
, Simona Rodighiero
, Giuliano Meyer
, Umberto Fascio
, Johannes Fürst
, Markus Ritter (Co-author)
, Laura Fugazzola
, Luca Persani
, Patrick Zorowka
, Carlo Storelli
, Paolo Beck-Peccoz
, Guido Bottà
, Markus Paulmichl^* (Last author)

^*Corresponding author for this work

Institute of Physiology and Pathophysiology Salzburg

Research output: Contribution to journal › Original Article › peer-review

33 Citations (Web of Science)

Original language	English
Pages (from-to)	245-256
Journal	Cellular physiology and biochemistry
Volume	17
Issue number	5-6
DOIs	https://doi.org/10.1159/000094137
Publication status	Published - 2006

Keywords

MOUSE KIDNEY
SYNDROME GENE
INTERCALATED CELLS
IODIDE TRANSPORTER
PDS GENE
ENDOPLASMIC-RETICULUM
EXCHANGER PENDRIN
CHANNEL BLOCKERS
EPITHELIAL-CELLS
APICAL PORTER

Access to Document

10.1159/000094137

Cite this

Dossena, S., Vezzoli, V., Cerutti, N., Bazzini, C., Tosco, M., Sironi, C., Rodighiero, S., Meyer, G., Fascio, U., Fürst, J., Ritter, M., Fugazzola, L., Persani, L., Zorowka, P., Storelli, C., Beck-Peccoz, P., Bottà, G., & Paulmichl, M. (2006). Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. Cellular physiology and biochemistry, 17(5-6), 245-256. https://doi.org/10.1159/000094137

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title = "Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.",

keywords = "MOUSE KIDNEY, SYNDROME GENE, INTERCALATED CELLS, IODIDE TRANSPORTER, PDS GENE, ENDOPLASMIC-RETICULUM, EXCHANGER PENDRIN, CHANNEL BLOCKERS, EPITHELIAL-CELLS, APICAL PORTER",

author = "Silvia Dossena and Valeria Vezzoli and Nadia Cerutti and Claudia Bazzini and Marisa Tosco and Chiara Sironi and Simona Rodighiero and Giuliano Meyer and Umberto Fascio and Johannes F{\"u}rst and Markus Ritter and Laura Fugazzola and Luca Persani and Patrick Zorowka and Carlo Storelli and Paolo Beck-Peccoz and Guido Bott{\`a} and Markus Paulmichl",

note = "Paracelsus Private Medical University,Salzburg ",

year = "2006",

doi = "10.1159/000094137",

language = "English",

volume = "17",

pages = "245--256",

journal = "Cellular physiology and biochemistry",

issn = "1015-8987",

number = "5-6",

}

Dossena, S, Vezzoli, V, Cerutti, N, Bazzini, C, Tosco, M, Sironi, C, Rodighiero, S, Meyer, G, Fascio, U, Fürst, J, Ritter, M, Fugazzola, L, Persani, L, Zorowka, P, Storelli, C, Beck-Peccoz, P, Bottà, G & Paulmichl, M 2006, 'Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.', Cellular physiology and biochemistry, vol. 17, no. 5-6, pp. 245-256. https://doi.org/10.1159/000094137

TY - JOUR

T1 - Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

AU - Dossena, Silvia

AU - Vezzoli, Valeria

AU - Cerutti, Nadia

AU - Bazzini, Claudia

AU - Tosco, Marisa

AU - Sironi, Chiara

AU - Rodighiero, Simona

AU - Meyer, Giuliano

AU - Fascio, Umberto

AU - Fürst, Johannes

AU - Ritter, Markus

AU - Fugazzola, Laura

AU - Persani, Luca

AU - Zorowka, Patrick

AU - Storelli, Carlo

AU - Beck-Peccoz, Paolo

AU - Bottà, Guido

AU - Paulmichl, Markus

N1 - Paracelsus Private Medical University,Salzburg

PY - 2006

Y1 - 2006

KW - MOUSE KIDNEY

KW - SYNDROME GENE

KW - INTERCALATED CELLS

KW - IODIDE TRANSPORTER

KW - PDS GENE

KW - ENDOPLASMIC-RETICULUM

KW - EXCHANGER PENDRIN

KW - CHANNEL BLOCKERS

KW - EPITHELIAL-CELLS

KW - APICAL PORTER

U2 - 10.1159/000094137

DO - 10.1159/000094137

M3 - Original Article

C2 - 16791000

SN - 1015-8987

VL - 17

SP - 245

EP - 256

JO - Cellular physiology and biochemistry

JF - Cellular physiology and biochemistry

IS - 5-6

ER -