(Q33719171)

English

Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

object named as

Jordan Wright

3

0 references

Nalinda P Wickramasinghe

object named as

Nalinda P Wickramasinghe

4

0 references

Fabrizio Barbetti

object named as

Fabrizio Barbetti

7

0 references

author name string

Ming Liu

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Leena Haataja

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Qing-Xin Hua

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Nelson F Phillips

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Michael A Weiss

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Peter Arvan

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

11 October 2010

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

e13333

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution 4.0 International

11 October 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

ERO1-beta, a pancreas-specific disulfide oxidase, promotes insulin biogenesis and glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Misfolded proinsulin affects bystander proinsulin in neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Proinsulin and the genetics of diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Enhancing the Activity of a Protein by Stereospecific Unfolding: CONFORMATIONAL LIFE CYCLE OF INSULIN AND ITS EVOLUTIONARY ORIGINS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Successful versus failed adaptation to high-fat diet-induced insulin resistance: the role of IAPP-induced beta-cell endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Relationship between beta-cell mass and diabetes onset.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Chop deletion reduces oxidative stress, improves beta cell function, and promotes cell survival in multiple mouse models of diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Diagnosis and treatment of neonatal diabetes: a United States experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

ATF4-mediated induction of 4E-BP1 contributes to pancreatic beta cell survival under endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

The endoplasmic reticulum in pancreatic beta cells of type 2 diabetes patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Proinsulin maturation, misfolding, and proteotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Endoplasmic reticulum stress contributes to beta cell apoptosis in type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

A conserved histidine in insulin is required for the foldability of human proinsulin: structure and function of an ALAB5 analog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Endoplasmic reticulum stress induction of insulin-like growth factor-binding protein-1 involves ATF4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Proinsulin disulfide maturation and misfolding in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

The endoplasmic reticulum stress response is stimulated through the continuous activation of transcription factors ATF6 and XBP1 in Ins2+/Akita pancreatic beta cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Induction of Grp78/BiP by translational block: activation of the Grp78 promoter by ATF4 through and upstream ATF/CRE site independent of the endoplasmic reticulum stress elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

The trafficking of alpha 1-antitrypsin, a post-Golgi secretory pathway marker, in INS-1 pancreatic beta cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Role of the connecting peptide in insulin biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Behavior in the eukaryotic secretory pathway of insulin-containing fusion proteins and single-chain insulins bearing various B-chain mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Chiral mutagenesis of insulin's hidden receptor-binding surface: structure of an allo-isoleucine(A2) analogue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Regulated translation initiation controls stress-induced gene expression in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

The ERO1 gene of yeast is required for oxidation of protein dithiols in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

A stress response pathway from the endoplasmic reticulum to the nucleus requires a novel bifunctional protein kinase/endoribonuclease (Ire1p) in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

The role of assembly in insulin's biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Mapping of murine diabetogenic gene mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Mapping the functional surface of insulin by design: structure and function of a novel A-chain analogue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Mutant insulin syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Lessons learned from molecular biology of insulin-gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Cellular and molecular biology of the beta cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

21 June 2018

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

A brief perspective on insulin production

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

Compensatory responses in mice carrying a null mutation for Ins1 or Ins2.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

A new model of insulin-deficient diabetes: male NOD mice with a single copy of Ins1 and no Ins2.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

How insulin binds: the B-chain alpha-helix contacts the L1 beta-helix of the insulin receptor.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013333

21 January 2018

Increased islet cell proliferation, decreased apoptosis, and greater vascularization leading to beta-cell hyperplasia in mutant mice lacking insulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2952628

30 October 2018

Ins1Gene Up-Regulated in aβ-Cell Line Derived fromIns2Knockout Mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of the phenylalanine B25 side chain in directing insulin interaction with its receptor. Steric and conformational effects

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Formation of the insulin-containing secretory granule core occurs within immature beta-granules

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proinsulin C-peptide--biological activity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Toward the active conformation of insulin: stereospecific modulation of a structural switch in the B chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The folding nucleus of the insulin superfamily: a flexible peptide model foreshadows the native state

1 reference

https://pubmed.ncbi.nlm.nih.gov/20948967

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0013333

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2010PLoSO...513333L

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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