Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia-Reference-Cited by-同舟云学术

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Published:2020-03-18 Issue:7 Volume:41 Page:1250-1262
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Angel Guillermo¹^ORCID,Reynders John¹,Negron Christopher²,Steinbrecher Thomas²,Mornet Etienne³^ORCID

Affiliation:

1. Data Sciences, Genomics, and BioinformaticsAlexion Pharmaceuticals, Inc. Boston Massachusetts

2. Schrödinger Inc.New York New York

3. Laboratoire de Génétique Constitutionnelle Prénatale et PostnataleCentre Hospitalier de Versailles Le Chesnay France

Funder

Alexion Pharmaceuticals

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24010

Reference47 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

3. Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

4. Clinical spectrum of hypophosphatasia diagnosed in adults

5. Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

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