FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387115972> ?p ?o ?g. }

• W4387115972 abstract "Biallelic mutations in AP4S1, the σ4 subunit of the adaptor protein complex 4 (AP-4), lead to autosomal recessive spastic paraplegia 52 (SPG52). It is a subtype of AP-4-associated hereditary spastic paraplegia (AP-4-HSP), a complex childhood-onset neurogenetic disease characterized by progressive spastic paraplegia of the lower limbs. This disease has so far lacked effective treatment, in part due to a lack of suitable animal models. Here, we used CRISPR/Cas9 technology to generate a truncation mutation in the ap4s1 gene in zebrafish. The ap4s1 truncation led to motor impairment, delayed neurodevelopment, and distal axonal degeneration. This animal model is useful for further research into AP-4 and AP-4-HSP." @default.
• W4387115972 created "2023-09-29" @default.
• W4387115972 creator A5002979153 @default.
• W4387115972 creator A5031340346 @default.
• W4387115972 creator A5075608538 @default.
• W4387115972 date "2023-09-28" @default.
• W4387115972 modified "2023-10-17" @default.
• W4387115972 title "<i>Ap4s1</i> truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52" @default.
• W4387115972 cites W1981144487 @default.
• W4387115972 cites W1984929419 @default.
• W4387115972 cites W2044746434 @default.
• W4387115972 cites W2064907322 @default.
• W4387115972 cites W2080004698 @default.
• W4387115972 cites W2084853699 @default.
• W4387115972 cites W2086734383 @default.
• W4387115972 cites W2098863053 @default.
• W4387115972 cites W2104927620 @default.
• W4387115972 cites W2107338709 @default.
• W4387115972 cites W2119260049 @default.
• W4387115972 cites W2125349610 @default.
• W4387115972 cites W2769285540 @default.
• W4387115972 cites W2784342862 @default.
• W4387115972 cites W2797489078 @default.
• W4387115972 cites W2801670790 @default.
• W4387115972 cites W2890240770 @default.
• W4387115972 cites W2947468563 @default.
• W4387115972 cites W2965952631 @default.
• W4387115972 cites W2967614896 @default.
• W4387115972 cites W2973198545 @default.
• W4387115972 cites W2982383546 @default.
• W4387115972 cites W2994972857 @default.
• W4387115972 cites W3000481233 @default.
• W4387115972 cites W3014070806 @default.
• W4387115972 cites W3016077071 @default.
• W4387115972 cites W3049212882 @default.
• W4387115972 cites W3080651988 @default.
• W4387115972 cites W3087495182 @default.
• W4387115972 cites W3087910839 @default.
• W4387115972 cites W3173457645 @default.
• W4387115972 cites W3177405587 @default.
• W4387115972 cites W3184024105 @default.
• W4387115972 cites W3198530657 @default.
• W4387115972 cites W3202080915 @default.
• W4387115972 cites W3202499481 @default.
• W4387115972 cites W4213022438 @default.
• W4387115972 cites W4214603090 @default.
• W4387115972 cites W4238151100 @default.
• W4387115972 cites W4285033170 @default.
• W4387115972 cites W4292103941 @default.
• W4387115972 cites W4292104480 @default.
• W4387115972 cites W4307842649 @default.
• W4387115972 cites W4313529587 @default.
• W4387115972 cites W4313729244 @default.
• W4387115972 cites W4385075208 @default.
• W4387115972 doi "https://doi.org/10.1002/jdn.10303" @default.
• W4387115972 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37767851" @default.
• W4387115972 hasPublicationYear "2023" @default.
• W4387115972 type Work @default.
• W4387115972 citedByCount "0" @default.
• W4387115972 crossrefType "journal-article" @default.
• W4387115972 hasAuthorship W4387115972A5002979153 @default.
• W4387115972 hasAuthorship W4387115972A5031340346 @default.
• W4387115972 hasAuthorship W4387115972A5075608538 @default.
• W4387115972 hasConcept C104317684 @default.
• W4387115972 hasConcept C127716648 @default.
• W4387115972 hasConcept C169760540 @default.
• W4387115972 hasConcept C2776195251 @default.
• W4387115972 hasConcept C2776878037 @default.
• W4387115972 hasConcept C2777597760 @default.
• W4387115972 hasConcept C2779421357 @default.
• W4387115972 hasConcept C2780395223 @default.
• W4387115972 hasConcept C2780775167 @default.
• W4387115972 hasConcept C501734568 @default.
• W4387115972 hasConcept C54355233 @default.
• W4387115972 hasConcept C71924100 @default.
• W4387115972 hasConcept C86803240 @default.
• W4387115972 hasConcept C99508421 @default.
• W4387115972 hasConceptScore W4387115972C104317684 @default.
• W4387115972 hasConceptScore W4387115972C127716648 @default.
• W4387115972 hasConceptScore W4387115972C169760540 @default.
• W4387115972 hasConceptScore W4387115972C2776195251 @default.
• W4387115972 hasConceptScore W4387115972C2776878037 @default.
• W4387115972 hasConceptScore W4387115972C2777597760 @default.
• W4387115972 hasConceptScore W4387115972C2779421357 @default.
• W4387115972 hasConceptScore W4387115972C2780395223 @default.
• W4387115972 hasConceptScore W4387115972C2780775167 @default.
• W4387115972 hasConceptScore W4387115972C501734568 @default.
• W4387115972 hasConceptScore W4387115972C54355233 @default.
• W4387115972 hasConceptScore W4387115972C71924100 @default.
• W4387115972 hasConceptScore W4387115972C86803240 @default.
• W4387115972 hasConceptScore W4387115972C99508421 @default.
• W4387115972 hasFunder F4320319772 @default.
• W4387115972 hasFunder F4320335777 @default.
• W4387115972 hasFunder F4320336652 @default.
• W4387115972 hasLocation W43871159721 @default.
• W4387115972 hasLocation W43871159722 @default.
• W4387115972 hasOpenAccess W4387115972 @default.
• W4387115972 hasPrimaryLocation W43871159721 @default.
• W4387115972 hasRelatedWork W1985852052 @default.
• W4387115972 hasRelatedWork W1986801602 @default.

• next