Volume 64, Issue 1, Pages (July 2003)

Slides:



Advertisements
Similar presentations
Volume 58, Issue 3, Pages (September 2000)
Advertisements

Volume 66, Issue 5, Pages (November 2004)
Volume 85, Issue 1, Pages (January 2014)
Volume 69, Issue 6, Pages (March 2006)
Graft pyelonephritis causing graft failure from de novo AA amyloid
Volume 60, Issue 6, Pages (December 2001)
by Nelson Leung, Samih H. Nasr, and Sanjeev Sethi
Volume 56, Issue 4, Pages (October 1999)
Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.
A Patient With Hereditary ATTR and a Novel AGel p
Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency  Barbara A. Binzak, Ron.
Volume 84, Issue 2, Pages (August 2013)
Volume 70, Issue 1, Pages (July 2006)
Recurrent AA Amyloidosis in a Kidney Transplant
Volume 54, Issue 3, Pages (September 1998)
Identification of cDNA Encoding a Serine Protease Homologous to Human Complement C1r Precursor from Grafted Mouse Skin  Sung June Byun, Young Yil Bahk,
Volume 54, Issue 3, Pages (September 1998)
Volume 77, Issue 9, Pages (May 2010)
Volume 63, Issue 2, Pages (February 2003)
Volume 58, Issue 3, Pages (September 2000)
Translation.
Volume 77, Issue 9, Pages (May 2010)
Medullary amyloidosis associated with apolipoprotein A-IV deposition
Volume 60, Issue 5, Pages (November 2001)
Volume 59, Issue 5, Pages (May 2001)
Molecular pathogenesis of Bartter’s and Gitelman’s syndromes
Emerging treatments for amyloidosis
Renal vascular sclerosis is associated with inherited thrombophilias
Volume 55, Issue 3, Pages (March 1999)
Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation  Makiko Yasuda, Junaid Shabbeer,
Homozygous Transthyretin Mutation in an African American Male
Volume 71, Issue 6, Pages (March 2007)
PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G  Kamran Ghaedi, Masanori.
Volume 82, Issue 2, Pages (July 2012)
Volume 56, Issue 2, Pages (August 1999)
Volume 58, Issue 2, Pages (August 2000)
Analysis of GFP expression in gfp loss-of-function mutants.
Volume 75, Issue 4, Pages (February 2009)
Volume 56, Issue 2, Pages (August 1999)
Volume 72, Issue 10, Pages (November 2007)
Volume 56, Issue 5, Pages (November 1999)
Apolipoprotein E is Present in Primary Localized Cutaneous Amyloidosis
Masahide Yazaki, Sandra A. Farrell, Merrill D. Benson 
Wook Lew  Journal of Investigative Dermatology 
Detecting Folding Intermediates of a Protein as It Passes through the Bacterial Translocation Channel  Hiroshi Kadokura, Jon Beckwith  Cell  Volume 138,
Annemieke Aartsma-Rus, Anneke A. M. Janson, Wendy E
Volume 82, Issue 4, Pages (August 2012)
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type  Kunihiko Aya, Hiroyuki Tanaka, Yoshiki.
Antiglomerular basement membrane disease with normal renal function
Volume 61, Issue 3, Pages (March 2002)
Volume 57, Issue 3, Pages (March 2000)
Volume 58, Issue 5, Pages (November 2000)
Role of macromolecular IgA in IgA nephropathy
Volume 57, Issue 6, Pages (June 2000)
Volume 59, Issue 5, Pages (May 2001)
Volume 80, Issue 10, Pages (November 2011)
Volume 71, Issue 6, Pages (March 2007)
Volume 53, Issue 5, Pages (May 1998)
Localized bladder amyloidosis mimicking bladder carcinoma
Volume 71, Issue 9, Pages (May 2007)
Amylin deposition in the kidney of patients with diabetic nephropathy
Volume 55, Issue 3, Pages (March 1999)
Increased plasma protein homocysteinylation in hemodialysis patients
Leukocyte chemotactic factor 2: A novel renal amyloid protein
Volume 68, Issue 5, Pages (November 2005)
Volume 78, Issue 2, Pages (July 2010)
Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency  Barbara A. Binzak, Ron.
Volume 85, Issue 4, Pages (April 2014)
Volume 78, Issue 3, Pages (August 2010)
Plasma concentration and urinary excretion of N-terminal proatrial natriuretic peptides in patients with kidney diseases  Martina Franz, Wolfgang Woloszczuk,
Presentation transcript:

Volume 64, Issue 1, Pages 11-16 (July 2003) Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg  Masahide Yazaki, Juris J. Liepnieks, Mark S. Barats, Arthur H. Cohen, Merrill D. Benson  Kidney International  Volume 64, Issue 1, Pages 11-16 (July 2003) DOI: 10.1046/j.1523-1755.2003.00047.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Renal biopsy. (A) Extensive glomerular amyloid deposits and amyloid in walls of blood vessels. (B) Congo red staining. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 DNA sequence analysis of exon 4 of apolipoprotein AII (apoAII) gene. Both T and C are present at the first position of apoAII stop codon (arrow) in the DNA sequence of the patient, indicating a replacement of stop codon by arginine (Arg) at codon 78. Abbreviations are: Ser, serine; Gln, glycine; Thr, threonine; Ala, alanine. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 3 Schema of 3′ cDNA sequence and deduced C-terminal amino acid sequence in the patient shows that the Stop78Arg mutation induces an extended peptide composed of 21 amino acids. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 4 Western blot of patient's plasma with anti-human apolipoprotein AII (apoAII). Nonreduced denatured and reduced denatured plasma samples were run in lanes C (normal control), G78 (a patient with apoAII Stop78Gly variant [5]), S78 (a patient with apoAII Stop78Ser variant [10]), and R78 (the patient in this study). Abbreviations are: N, normal apoAII monomeric form; V, variant apoAII monomeric form; V+V, N+V, and N+N, dimeric forms of apoAII. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 5 Western analysis of serum and amyloid fibrils from patient with apolipoprotein AII (apoAII) amyloidosis. Serum of the patient (lane 2) shows both normal (N) and variant (V) apoAII under reducing conditions, whereas a normal control serum (lane 3) contains only normal apoAII. Amyloid fibrils isolated from the patient (lane 1) contain only the variant apoAII, indicating that either reduction of the disulfide linked dimer occurs prior to amyloid fibril formation or only the variant homodimer participates in the amyloid process. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 6 Schema of three identified mutant apolipoprotein AII (apoAII) amyloid proteins compared to wild-type apoAII. Each variant is a 98 residue protein differing only at residue 78. Kidney International 2003 64, 11-16DOI: (10.1046/j.1523-1755.2003.00047.x) Copyright © 2003 International Society of Nephrology Terms and Conditions