Literature DB >> 24607922

The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.

Anna Ruotolo, Maria Donata Di Taranto, Maria Nicoletta D'Agostino, Gennaro Marotta, Marco Gentile, Maria Nunziata, Marta Sodano, Rosa Di Noto, Luigi Del Vecchio, Paolo Rubba, Giuliana Fortunato.   

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Year:  2014        PMID： 24607922     DOI： 10.1515/cclm-2014-0144

Source DB:  PubMed          Journal:  Clin Chem Lab Med        ISSN： 1434-6621            Impact factor:   3.694


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  8 in total

1.  Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.

Authors:  Miklós Péterfy; Candy Bedoya; Carola Giacobbe; Carmen Pagano; Marco Gentile; Paolo Rubba; Giuliana Fortunato; Maria Donata Di Taranto
Journal:  J Clin Lipidol       Date:  2018-07-25       Impact factor: 4.766

2.  Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

Authors:  Maria Donata Di Taranto; Monica Gelzo; Carola Giacobbe; Marco Gentile; Gennaro Marotta; Silvia Savastano; Antonio Dello Russo; Giuliana Fortunato; Gaetano Corso
Journal:  Metab Brain Dis       Date:  2016-05-26       Impact factor: 3.584

Review 3.  Statistical and Computational Methods for Genetic Diseases: An Overview.

Authors:  Francesco Camastra; Maria Donata Di Taranto; Antonino Staiano
Journal:  Comput Math Methods Med       Date:  2015-05-28       Impact factor: 2.238

4.  Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Authors:  Maria Donata Di Taranto; Asier Benito-Vicente; Carola Giacobbe; Kepa Belloso Uribe; Paolo Rubba; Aitor Etxebarria; Ornella Guardamagna; Marco Gentile; Cesar Martín; Giuliana Fortunato
Journal:  Sci Rep       Date:  2017-11-10       Impact factor: 4.379

5.  Membrane type 1 matrix metalloproteinase promotes LDL receptor shedding and accelerates the development of atherosclerosis.

Authors:  Adekunle Alabi; Xiao-Dan Xia; Hong-Mei Gu; Faqi Wang; Shi-Jun Deng; Nana Yang; Ayinuer Adijiang; Donna N Douglas; Norman M Kneteman; Yazhuo Xue; Li Chen; Shucun Qin; Guiqing Wang; Da-Wei Zhang
Journal:  Nat Commun       Date:  2021-03-25       Impact factor: 14.919

6.  Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Authors:  Samantha K Sarkar; Angela Matyas; Ikhuosho Asikhia; Zhenkun Hu; Mia Golder; Kaitlyn Beehler; Tanja Kosenko; Thomas A Lagace
Journal:  Front Physiol       Date:  2022-09-14       Impact factor: 4.755

7.  Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Authors:  Maria Donata Di Taranto; Carola Giacobbe; Daniela Palma; Gabriella Iannuzzo; Marco Gentile; Ilenia Calcaterra; Ornella Guardamagna; Renata Auricchio; Matteo Nicola Dario Di Minno; Giuliana Fortunato
Journal:  Clin Genet       Date:  2021-08-03       Impact factor: 4.296

8.  A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Authors:  Maria Donata Di Taranto; Carola Giacobbe; Alessio Buonaiuto; Ilenia Calcaterra; Daniela Palma; Giovanna Maione; Gabriella Iannuzzo; Matteo Nicola Dario Di Minno; Paolo Rubba; Giuliana Fortunato
Journal:  J Clin Med       Date:  2020-01-14       Impact factor: 4.241
  8 in total

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