scholarly journals Bruck syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Bruck Syndrome

scholarly journals Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2

2016 ◽  
Vol 113 (26) ◽  
pp. 7142-7147 ◽  
Author(s):  
Rutger A. F. Gjaltema ◽  
Miesje M. van der Stoel ◽  
Miriam Boersema ◽  
Ruud A. Bank
Keyword(s):  
Posttranslational Modifications ◽  
Molecular Level ◽  
Splice Variants ◽  
Active Form ◽  
Connective Tissue Disorder ◽  
Cross Linking ◽  
Ppiase Activity ◽  
Lysyl Hydroxylase ◽  
Bruck Syndrome ◽  
Lysine Hydroxylation

Collagens are subjected to extensive posttranslational modifications, such as lysine hydroxylation. Bruck syndrome (BS) is a connective tissue disorder characterized at the molecular level by a loss of telopeptide lysine hydroxylation, resulting in reduced collagen pyridinoline cross-linking. BS results from mutations in the genes coding for lysyl hydroxylase (LH) 2 or peptidyl-prolyl cis-trans isomerase (PPIase) FKBP65. Given that the immunophilin FKBP65 does not exhibit LH activity, it is likely that LH2 activity is somehow dependent on FKPB65. In this report, we provide insights regarding the interplay between LH2 and FKBP65. We found that FKBP65 forms complexes with LH2 splice variants LH2A and LH2B but not with LH1 and LH3. Ablating the catalytic activity of FKBP65 or LH2 did not affect complex formation. Both depletion of FKBP65 and inhibition of FKBP65 PPIase activity reduced the dimeric (active) form of LH2 but did not affect the binding of monomeric (inactive) LH2 to procollagen Iα1. Furthermore, we show that LH2A and LH2B cannot form heterodimers with each other but are able to form heterodimers with LH1 and LH3. Collectively, our results indicate that FKBP65 is linked to pyridinoline cross-linking by specifically mediating the dimerization of LH2. Moreover, FKBP65 does not interact with LH1 and LH3, explaining why in BS triple-helical hydroxylysines are not affected. Our results provide a mechanistic link between FKBP65 and the loss of pyridinolines and may hold the key to future treatments for diseases related to collagen cross-linking anomalies, such as fibrosis and cancer.

Osteogenesis imperfecta with joint contractures: Bruck syndrome

1998 ◽  
Vol 28 (2) ◽  
pp. 117-119 ◽  
Author(s):  
M. F. Blacksin ◽  
Beth A. Pletcher ◽  
Miriam David
Keyword(s):  
Osteogenesis Imperfecta ◽  
Joint Contractures ◽  
Bruck Syndrome

scholarly journals Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

2018 ◽  
Vol 37 (3) ◽  
pp. 276-279
Author(s):  
Suraj Dhaubhadel ◽  
Bimala Baniya ◽  
Hema Joshi ◽  
Ram Hari Chapagain ◽  
Krishna Prasad Paudel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Femur Fracture ◽  
Bone Fragility ◽  
Rare Disorder ◽  
Arthrogryposis Multiplex Congenita ◽  
Joint Contractures ◽  
New Born ◽  
Bruck Syndrome

Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)

1993 ◽  
Vol 152 (6) ◽  
pp. 505-508 ◽  
Author(s):  
R. E. Brenner ◽  
U. Vetter ◽  
H. Stöss ◽  
P. K. Müller ◽  
W. M. Teller
Keyword(s):  
Osteogenesis Imperfecta ◽  
Collagen Fibril ◽  
Fibril Formation ◽  
Joint Contractures ◽  
Bruck Syndrome

Bruck syndrome

2005 ◽  
Vol 72 (5) ◽  
pp. 441-442 ◽  
Author(s):  
Vikram Datta ◽  
Aditi Sinha ◽  
Arvind Saili ◽  
Sushma Nangia
Keyword(s):  
Bruck Syndrome

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

2012 ◽  
Vol 33 (10) ◽  
pp. 1444-1449 ◽  
Author(s):  
Maria Trinidad Puig-Hervás ◽  
Samia Temtamy ◽  
Mona Aglan ◽  
Maria Valencia ◽  
Víctor Martínez-Glez ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Connective Tissue Disorders ◽  
Phenotypic Spectrum ◽  
Bruck Syndrome

Bruck Syndrome (Mim 259450; 609220; 610968)

2012 ◽  
pp. 527-529
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Bruck Syndrome

Chapter 121 covers Bruck syndrome (MIM 259450, 609220, 610968), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

PLoS ONE ◽  
2014 ◽  
Vol 9 (9) ◽  
pp. e107594 ◽  
Author(s):  
Peiran Zhou ◽  
Yi Liu ◽  
Fang Lv ◽  
Min Nie ◽  
Yan Jiang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Bruck Syndrome

Bruck syndrome: neonatal presentation and natural course in three patients

1998 ◽  
Vol 28 (10) ◽  
pp. 781-789 ◽  
Author(s):  
J. G. Leroy ◽  
Lieve Nuytinck ◽  
Anne De Paepe ◽  
Magda De Rammelaere ◽  
Yves Gillerot ◽  
...  
Keyword(s):  
Natural Course ◽  
Bruck Syndrome ◽  
Neonatal Presentation
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