The role of emerging techniques in the investigation of prolidase deficiency: From diagnosis to the development of a possible therapeutical approach

Viglio, Simona; Annovazzi, Laura; Conti, Bice; Perugini, Paola; Zanone, Chiara; Casado, Begoña; Cetta, Giuseppe; Iadarola, Paolo

doi:10.1016/j.jchromb.2005.12.049

Cited by 36 publications

(37 citation statements)

References 59 publications

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“…The down-regulated N-methyl nicotinic acid in liver cancer patients reflects a nicotinate and nicotinamide metabolism disorder. Urinary leuacylproline was found up-regulated in our work and in prolidase deficiency [24]. Prolidase is present in the liver and plays a significant role in the proline cycle [25,26].…”

Section: Potential Biomarker Selection Discovery and Explanationsupporting

confidence: 56%

Metabonomics study of liver cancer based on ultra performance liquid chromatography coupled to mass spectrometry with HILIC and RPLC separations

Chen

Wang

et al. 2009

Analytica Chimica Acta

197

131

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Section: Potential Biomarker Selection Discovery and Explanationsupporting

confidence: 56%

Metabonomics study of liver cancer based on ultra performance liquid chromatography coupled to mass spectrometry with HILIC and RPLC separations

Chen

Wang

et al. 2009

Analytica Chimica Acta

197

131

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“…Hyperiminodipeptiduria is the characteristic biochemical abnormality. Reduced prolidase activity in leukocytes, erythrocytes, cultured fibroblasts, or amniocytes confirms diagnosis [Mandel et al, 2000;Hechtman et al, 2001;Lupi et al, 2006;Viglio et al, 2006].…”

Section: Introductionmentioning

confidence: 95%

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Falik‐Zaccai

Khayat

Luder

et al. 2009

American J of Med Genetics Pt B

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Prolidase deficiency (PD) is a rare, pan-ethnic, autosomal recessive disease with a broad phenotypic spectrum. Seventeen causative mutations in the PEPD gene have been reported worldwide. The purpose of this study is to characterize, clinically and molecularly, 20 prolidase deficient patients of Arab Moslem and Druze origin from 10 kindreds residing in northern Israel. All PD patients manifested developmental delay and facial dysmorphism. Typical PD dermatological symptoms, splenomegaly, and recurrent respiratory infections presented in varying degrees. Two patients had systemic lupus erythematosus (SLE), and one a novel cystic fibrosis phenotype. Direct DNA sequencing revealed two novel missense mutations, A212P and L368R. In addition, a previously reported S202F mutation was detected in 17 patients from seven Druze and three Arab Moslem kindreds. Patients homozygous for the S202F mutation manifest considerable interfamilial and intrafamilial phenotypic variability. The high prevalence of this mutation among Arab Moslems and Druze residing in northern Israel, and the presence of an identical haplotype along 500,000 bp in patients and their parents, suggests a founder event tracing back to before the breakaway of the Druze from mainstream Moslem society.

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“…The supernatant was filtered using a Microcon concentrator (Millipore, MA, USA) for 5 min at 6000 rpm. The prolidase activity was determined by a capillary electrophoretic method previously set up (Viglio et al 2006) and using a Beckman P/ACE 2100 system (Fullerton, CA, USA) equipped with an UV detector. Samples were injected by pressure (10 s, 0.07 MPa) onto an uncoated fused silica capillary of 50 cm effective length Â 50 mm I.D operating at 25 C and applying a voltage of 25 kV.…”

Section: In Vitro Evaluation Of Prolidase Activitymentioning

confidence: 99%

“…In this case, chitosan nanoparticles were designed to load the prolidase, a naturally occurring enzyme involved in the final stage of collagen catabolism. These nanoparticles were projected for an enzyme replacement therapy to treat prolidase deficiency, a rare autosomal recessive inherited disorder (Viglio et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Chitosan glutamate nanoparticles for protein delivery: Development and effect on prolidase stability

Colonna

Conti

Perugini

et al. 2007

Journal of Microencapsulation

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A TPP to chitosan weight ratio of 0.2:1 combined with one ultrasonication cycle (4 min using the probe-type sonifier at 75% power) obtained well-formed nanoparticles of spherical shape, mean size of approximately 365 nm (polydispersity index 0.3) and a + 17.94 mV zeta potential. A satisfactory prolidase encapsulation efficiency (43%) was obtained with a yield of the preparation process of approximately 55%. In vitro study of activity of prolidase, as free enzyme or released from chitosan nanoparticles, highlighted the ability of chitosan to stabilize the enzyme during all the steps of the preparation process and to modulate the enzyme activity up to 48 h.

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The role of emerging techniques in the investigation of prolidase deficiency: From diagnosis to the development of a possible therapeutical approach

Cited by 36 publications

References 59 publications

Metabonomics study of liver cancer based on ultra performance liquid chromatography coupled to mass spectrometry with HILIC and RPLC separations

Metabonomics study of liver cancer based on ultra performance liquid chromatography coupled to mass spectrometry with HILIC and RPLC separations

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Chitosan glutamate nanoparticles for protein delivery: Development and effect on prolidase stability

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