scholarly journals Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

2004 ◽  
Vol 36 (4) ◽  
pp. 400-404 ◽  
Author(s):  
Paul Gissen ◽  
Colin A Johnson ◽  
Neil V Morgan ◽  
Janneke M Stapelbroek ◽  
Tim Forshew ◽  
...  
Keyword(s):  
Membrane Fusion ◽  
Renal Dysfunction ◽  
Arc Syndrome

scholarly journals The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage

2015 ◽  
Vol 63 (3) ◽  
pp. 561-563 ◽  
Author(s):  
Angela C. Weyand ◽  
Rebecca M. Lombel ◽  
Steven W. Pipe ◽  
Jordan A. Shavit
Keyword(s):  
Renal Dysfunction ◽  
Aminocaproic Acid ◽  
Arc Syndrome

scholarly journals The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila

2011 ◽  
Vol 192 (3) ◽  
pp. 383-390 ◽  
Author(s):  
Mohammed Ali Akbar ◽  
Charles Tracy ◽  
Walter H.A. Kahr ◽  
Helmut Krämer
Keyword(s):  
Renal Dysfunction ◽  
Immune Defense ◽  
Specific Requirement ◽  
Phagosome Maturation ◽  
Late Endosomes ◽  
Arc Syndrome ◽  
Hops Complex

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a fatal recessive disorder caused by mutations in the VPS33B or VPS16B genes. Both encode homologues of the Vps33p and Vps16p subunits of the HOPS complex necessary for fusions of vacuoles in yeast. Here, we describe a mutation in the full-of-bacteria (fob) gene, which encodes Drosophila Vps16B. Flies null for fob are homozygous viable and fertile. They exhibit, however, a defect in their immune defense that renders them hypersensitive to infections with nonpathogenic bacteria. fob hemocytes (fly macrophages) engulf bacteria but fail to digest them. Phagosomes undergo early steps of maturation and transition to a Rab7-positive stage, but do not mature to fully acidified phagolysosomes. This reflects a specific requirement of fob in the fusion of phagosomes with late endosomes/lysosomes. In contrast, cargo of autophagosomes as well as endosomes exhibit normal lysosomal delivery in fob cells. These findings suggest that defects in phagosome maturation may contribute to symptoms of ARC patients including recurring infections.

Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: A case report

2013 ◽  
Vol 14 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Omar I. Saadah ◽  
Bayan E. Bokhari ◽  
Taghreed M. Alshaeri ◽  
Wasil Jastaniah
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Arc Syndrome

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype

2006 ◽  
Vol 148 (2) ◽  
pp. 269-271 ◽  
Author(s):  
Laura N. Bull ◽  
Venus Mahmoodi ◽  
Alastair J. Baker ◽  
Rosamond Jones ◽  
Sandra S. Strautnieks ◽  
...  
Keyword(s):  
Renal Dysfunction ◽  
Arc Syndrome

scholarly journals Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney

2018 ◽  
pp. bcr-2017-223715
Author(s):  
Vishal Gupta ◽  
Aakash Pandita ◽  
Astha Panghal ◽  
Venkat Kallem
Keyword(s):  
Renal Dysfunction ◽  
Rare Association ◽  
Arc Syndrome

Congenital Arthrogryposis - Renal dysfunction-Cholestasis (ARC) syndrome : a case report

2021 ◽  
Vol 42 (1) ◽  
pp. 49-51
Author(s):  
C Colot ◽  
AB Johansson ◽  
C Vilain ◽  
J Soblet ◽  
K Ismaili ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Dysfunction ◽  
Arc Syndrome

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions

2019 ◽  
Vol 35 (2) ◽  
pp. 247-248
Author(s):  
Minh Dien Duong ◽  
Chelsi M. Rose ◽  
Kimberly J. Reidy ◽  
Marcela Del Rio
Keyword(s):  
Renal Dysfunction ◽  
Renal Involvement ◽  
Arc Syndrome ◽  
Uncommon Case
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