Lack of prolidase causes a bone phenotype both in human and in mouse

Besio, Roberta; Maruelli, Silvia; Gioia, Roberta; Villa, Isabella; Grabowski, Peter; Gallagher, Orla; Bishop, Nicholas; Foster, Sarah; Lorenzi, Ersilia De; Colombo, Raffaella; Diaz, Josè Luis Dapena; Moore-Barton, Haether; Deshpande, Charu; Aydin, Halil İbrahim; Tokatlı, Ayşegül; Kwiek, Bartłomiej; Kasapkara, Çiğdem Seher; Adışen, Esra; Gürer, Mehmet Ali; Rocco, Maja Di; Phang, James M.; Gunn, Teresa M.; Tenni, Ruggero; Rossi, Antonio; Forlino, Antonella

doi:10.1016/j.bone.2014.11.009

Cited by 22 publications

(26 citation statements)

References 37 publications

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“…To date, ∼ 90 patients with PD have been described, 67 of which have been molecularly characterized revealing 28 distinct mutant alleles [Tanoue et al, 1990[Tanoue et al, , 1991Ledoux et al, 1994Ledoux et al, , 1996Kikuchi et al, 2000;Forlino et al, 2002;Lupi et al, 2004Lupi et al, , 2006Lupi et al, , 2008Hershkovitz et al, 2006;Wang et al, 2006;Falik-Zaccai et al, 2010;Klar et al, 2010;Butbul Aviel et al, 2012;Caselli et al, 2012;Pandit et al, 2013;Besio et al, 2015]. The PEPD gene is over 130 kb long and is comprised of 15 exons.…”

Section: Discussionmentioning

confidence: 99%

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

et al. 2016

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Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D (PEPD) gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population. We describe the first Mexican-American patient with PD, who presented with typical facial features, developmental delay, microcephaly, and xerosis. Chromosome microarray analysis (CMA) revealed a homozygous deletion in the region of 19q13.11, estimated to be between 124.79 and 195.72 kb in size, representing the largest PEPD gene deletion reported to date and the first discovered by CMA.

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Section: Discussionmentioning

confidence: 99%

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

et al. 2016

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“…6,7,9,10 Musculoskeletal manifestations include short stature, joint laxity, osteoporosis, dislocated hip, coxa valga, genu valgum, and foot anomalies. 6-11 Mental retardation is another common feature of the disease. 7-9 Magnetic resonance imaging of the brain in these patients has shown multiple microthrombi in cerebral white matter and mental retardation appears to be related to angiopathy.…”

Section: Discussionmentioning

confidence: 99%

A Rare Cause of Lower Extremity Ulcers

Adışen

Erduran

Ezgu

et al. 2015

The International Journal of Lower Extremity Wounds

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Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.

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“…Numerous clinical studies on PD have observed intellectual disabilities and developmental delays in patients. The deficiency of prolidase in mice also shows intellectual delays and disabilities ( Besio et al, 2015 ) which have now become associated with PD, implicating the importance of prolidase in brain health and function. However, the role of prolidase in brain health is understudied.…”

Section: Prolidase Deficiencymentioning

confidence: 99%

PROLIDASE: A Review from Discovery to its Role in Health and Disease

Eni-Aganga

Lanaghan

Muthukumar

et al. 2021

Front. Mol. Biosci.

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Prolidase (peptidase D), encoded by the PEPD gene, is a ubiquitously expressed cytosolic metalloproteinase, the only enzyme capable of cleaving imidodipeptides containing C-terminal proline or hydroxyproline. Prolidase catalyzes the rate-limiting step during collagen recycling and is essential in protein metabolism, collagen turnover, and matrix remodeling. Prolidase, therefore plays a crucial role in several physiological processes such as wound healing, inflammation, angiogenesis, cell proliferation, and carcinogenesis. Accordingly, mutations leading to loss of prolidase catalytic activity result in prolidase deficiency a rare autosomal recessive metabolic disorder characterized by defective wound healing. In addition, alterations in prolidase enzyme activity have been documented in numerous pathological conditions, making prolidase a useful biochemical marker to measure disease severity. Furthermore, recent studies underscore the importance of a non-enzymatic role of prolidase in cell regulation and infectious disease. This review aims to provide comprehensive information on prolidase, from its discovery to its role in health and disease, while addressing the current knowledge gaps.

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Lack of prolidase causes a bone phenotype both in human and in mouse

Cited by 22 publications

References 37 publications

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

A Rare Cause of Lower Extremity Ulcers

PROLIDASE: A Review from Discovery to its Role in Health and Disease

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