A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM) | Zendy

Ricard Masia | Zendy; Diva D. De León | Zendy; Courtney MacMullen | Zendy; Heather McKnight | Zendy; Charles A. Stanley | Zendy; Colin G. Nichols | Zendy

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A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

Author(s) -

Ricard Masia,

Diva D. De León,

Courtney MacMullen,

Heather McKnight,

Charles A. Stanley,

Colin G. Nichols

Publication year - 2007

Publication title -

diabetes

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.219

H-Index - 330

eISSN - 1939-327X

pISSN - 0012-1797

DOI - 10.2337/db06-1746

Subject(s) - sulfonylurea receptor , sulfonylurea , mutation , nucleotide , gating , potassium channel , medicine , endocrinology , glibenclamide , chemistry , biology , biochemistry , biophysics , diabetes mellitus , gene

We sought to examine the molecular mechanisms underlying permanenent neonatal diabetes mellitus (PNDM) in a patient with a heterozygous de novo L225P mutation in the L0 region of the sulfonylurea receptor (SUR)1, the regulatory subunit of the pancreatic ATP-sensitive K(+) channel (K(ATP) channel).

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