FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2972644035> ?p ?o ?g. }

• W2972644035 endingPage "3894" @default.
• W2972644035 startingPage "3880" @default.
• W2972644035 abstract "Abstract Pompe disease (OMIM # 232300) is a glycogen storage disease caused by autosomal recessive mutations of the gene encoding alpha-1,4-glucosidase (GAA; EC 3.2.1.20). Despite the relatively effective employment of enzyme replacement therapy, some critical medical issues still exist in patients with this disease, including the persistence of abnormalities in the central nervous system (CNS), probably because of the inability of the recombinant GAA to pass through the blood–brain barrier. To address this issue, identification of more therapeutic agents that target the CNS of patients with Pompe disease may be required. In this study, we derived neuronal cells from Pompe disease-induced pluripotent stem cells (Pom-iPSCs) and proved that they are able to recapitulate the hallmark cellular and biochemical phenotypes of Pompe disease. Using the Pom-iPSC-derived neurons as an in vitro drug-testing model, we then identified three compounds, ebselen, wortmannin and PX-866, with therapeutic potential to alleviate Pompe disease-associated pathological phenotypes in the neurons derived from Pom-iPSCs. We confirmed that all three compounds were able to enhance the GAA activity in the Pom-iPSC-derived neurons. Moreover, they were able to enhance the GAA activity in several important internal organs of GAA-deficient mice when co-injected with recombinant human GAA, and we found that intraperitoneal injection of ebselen was able to promote the GAA activity of the GAA-heterozygous mouse brain. Our results prove the usefulness of Pom-iPSC-derived neuronal populations for identifying new compounds with therapeutic potential." @default.
• W2972644035 created "2019-09-19" @default.
• W2972644035 creator A5000062611 @default.
• W2972644035 creator A5007623352 @default.
• W2972644035 creator A5028778365 @default.
• W2972644035 creator A5032062008 @default.
• W2972644035 creator A5064573604 @default.
• W2972644035 creator A5077036082 @default.
• W2972644035 date "2019-09-13" @default.
• W2972644035 modified "2023-10-16" @default.
• W2972644035 title "Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential" @default.
• W2972644035 cites W1582808148 @default.
• W2972644035 cites W1966747269 @default.
• W2972644035 cites W1982298098 @default.
• W2972644035 cites W1983658092 @default.
• W2972644035 cites W1988793208 @default.
• W2972644035 cites W1989439959 @default.
• W2972644035 cites W1994519378 @default.
• W2972644035 cites W1998763644 @default.
• W2972644035 cites W2003914437 @default.
• W2972644035 cites W2018926746 @default.
• W2972644035 cites W2022807266 @default.
• W2972644035 cites W2027195009 @default.
• W2972644035 cites W2027779842 @default.
• W2972644035 cites W2028311695 @default.
• W2972644035 cites W2031093319 @default.
• W2972644035 cites W2036562453 @default.
• W2972644035 cites W2041118365 @default.
• W2972644035 cites W2047627643 @default.
• W2972644035 cites W2054810866 @default.
• W2972644035 cites W2055349784 @default.
• W2972644035 cites W2058658653 @default.
• W2972644035 cites W2059676221 @default.
• W2972644035 cites W2060701415 @default.
• W2972644035 cites W2068739916 @default.
• W2972644035 cites W2074738037 @default.
• W2972644035 cites W2081049470 @default.
• W2972644035 cites W2083805206 @default.
• W2972644035 cites W2089556813 @default.
• W2972644035 cites W2092433968 @default.
• W2972644035 cites W2096669819 @default.
• W2972644035 cites W2098331662 @default.
• W2972644035 cites W2098985594 @default.
• W2972644035 cites W2099289539 @default.
• W2972644035 cites W2099832987 @default.
• W2972644035 cites W2102833178 @default.
• W2972644035 cites W2105508989 @default.
• W2972644035 cites W2106394784 @default.
• W2972644035 cites W2112373659 @default.
• W2972644035 cites W2117141439 @default.
• W2972644035 cites W2117675141 @default.
• W2972644035 cites W2123908307 @default.
• W2972644035 cites W2127608615 @default.
• W2972644035 cites W2131089732 @default.
• W2972644035 cites W2132823811 @default.
• W2972644035 cites W2138574694 @default.
• W2972644035 cites W2144759789 @default.
• W2972644035 cites W2148828403 @default.
• W2972644035 cites W2155045369 @default.
• W2972644035 cites W2155821599 @default.
• W2972644035 cites W2159490726 @default.
• W2972644035 cites W2162584257 @default.
• W2972644035 cites W2163404991 @default.
• W2972644035 cites W2163435252 @default.
• W2972644035 cites W2169404683 @default.
• W2972644035 cites W2171152897 @default.
• W2972644035 cites W2195215306 @default.
• W2972644035 cites W2256159962 @default.
• W2972644035 cites W2399250695 @default.
• W2972644035 cites W2442275722 @default.
• W2972644035 cites W2485841399 @default.
• W2972644035 cites W2601310652 @default.
• W2972644035 cites W2623260545 @default.
• W2972644035 cites W2741824067 @default.
• W2972644035 cites W2753413345 @default.
• W2972644035 cites W2770869187 @default.
• W2972644035 cites W2785386287 @default.
• W2972644035 cites W2797407166 @default.
• W2972644035 cites W2896315802 @default.
• W2972644035 cites W2915808837 @default.
• W2972644035 cites W2921746639 @default.
• W2972644035 cites W2943672670 @default.
• W2972644035 doi "https://doi.org/10.1093/hmg/ddz218" @default.
• W2972644035 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31518394" @default.
• W2972644035 hasPublicationYear "2019" @default.
• W2972644035 type Work @default.
• W2972644035 sameAs 2972644035 @default.
• W2972644035 citedByCount "6" @default.
• W2972644035 countsByYear W29726440352020 @default.
• W2972644035 countsByYear W29726440352021 @default.
• W2972644035 countsByYear W29726440352022 @default.
• W2972644035 countsByYear W29726440352023 @default.
• W2972644035 crossrefType "journal-article" @default.
• W2972644035 hasAuthorship W2972644035A5000062611 @default.
• W2972644035 hasAuthorship W2972644035A5007623352 @default.
• W2972644035 hasAuthorship W2972644035A5028778365 @default.
• W2972644035 hasAuthorship W2972644035A5032062008 @default.
• W2972644035 hasAuthorship W2972644035A5064573604 @default.

• next