M Schröder, RJ Kaufman - … Research-Fundamental and Molecular Mechanisms of …, 2005 - Elsevier Conformational diseases are caused by mutations altering the folding pathway or
final conformation of a protein. Many conformational diseases are caused by
mutations in secretory proteins and reach from metabolic diseases, eg ... Cited by 351 - Related articles - All 7 versions
- ►nih.gov M Prentki, CJ Nolan - Journal of Clinical Investigation, 2006 - Am Soc Clin Investig The major focus of this Review is on the mechanisms of islet β cell failure in
the pathogenesis of obesity-associated type 2 diabetes (T2D). As this demise
occurs within the context of β cell compensation for insulin resistance, ... Cited by 199 - Related articles - BL Direct - All 7 versions
MY Donath, PA Halban - Diabetologia, 2004 - Springer Increasing evidence indicates that decreased functional beta-cell mass is the
hallmark of both Type 1 and Type 2 diabetes. This underlies the absolute or
relative insu- lin insufficiency in both conditions. In this For Debate, we ... Cited by 123 - Related articles - BL Direct - All 6 versions
MY Donath, JA Ehses, K Maedler, DM … - Diabetes, 2005 - Am Diabetes Assoc A decrease in the number of functional insulin-producing β-cells contributes to
the pathophysiology of type 2 diabetes. Opinions diverge regarding the relative
contribution of a decrease in β-cell mass versus an intrinsic defect in ... Cited by 86 - Related articles - BL Direct - All 6 versions
- ►pnas.org J Støy, EL Edghill, SE Flanagan, H Ye, VP … - Proceedings of the National Academy of Sciences, 2007 - National Acad Sciences We report 10 heterozygous mutations in the human insulin gene in 16 probands
with neonatal diabetes. A combination of linkage and a candidate gene approach
in a family with four diabetic members led to the identification of the ... Cited by 74 - Related articles - BL Direct - All 11 versions
- ►nih.gov K Kasai, M Ohara-Imaizumi, N Takahashi, S … - Journal of Clinical Investigation, 2005 - Am Soc Clin Investig The monomeric small GTPase Rab27a is specifically localized on both secretory
granules and lysosome-related organelles. Although natural mutations of the
Rab27a gene in human Griscelli syndrome and in ashen mice cause partial ... Cited by 69 - Related articles - BL Direct - All 10 versions
- ►iovs.org AJ Barber, DA Antonetti, TS Kern, CEN … - Investigative ophthalmology & visual science, 2005 - ARVO RESULTS. The mean blood glucose of Ins2 Akita mice was significantly elevated,
whereas the body weight at death was reduced compared with that of control
animals. Compared with sibling control mice, the Ins2 Akita mice had ... Cited by 61 - Related articles - All 4 versions
- ►physiology.org [PDF] SB Gurley, SE Clare, KP Snow, A Hu, TW … - American Journal of Physiology- Renal Physiology, 2006 - Am Physiological Soc 44 articles, 25 of which you can access free at: This article cites
http://ajprenal.physiology.org/cgi/content/full/290/1/F214#BIBL ... 17 other
HighWire hosted articles, the first 5 are: This article has been cited by Cited by 46 - Related articles - BL Direct - All 5 versions
G Rebello, R Ramesar, A Vorster, L Roberts … - Proceedings of the National Academy of Sciences of …, 2004 - National Acad Sciences Genetic and physical mapping of the RP17 locus on 17q identified a 3.6-megabase
candidate region that includes the gene encoding carbonic anhydrase IV (CA4), a
glycosylphosphatidylinositol-anchored protein that is highly expressed in ... Cited by 43 - Related articles - BL Direct - All 8 versions
- ►diabetesjournals.org N Herbach, B Rathkolb, E Kemter, L Pichl, M … - Diabetes, 2007 - Am Diabetes Assoc The novel diabetic mouse model Munich Ins2 C95S was discovered within the Munich
N-ethyl-N-nitrosourea mouse mutagenesis screen. These mice exhibit a T→A
transversion in the insulin 2 (Ins2) gene at nucleotide position 1903 in ... Cited by 32 - Related articles - BL Direct - All 6 versions