FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283753005> ?p ?o ?g. }

• W4283753005 endingPage "2598" @default.
• W4283753005 startingPage "2590" @default.
• W4283753005 abstract "Abstract Childhood‐onset forms of hereditary spastic paraplegia are ultra‐rare diseases and often present with complex features. Next‐generation‐sequencing allows for an accurate diagnosis in many cases but the interpretation of novel variants remains challenging, particularly for missense mutations. Where sufficient knowledge of the protein function and/or downstream pathways exists, functional studies in patient‐derived cells can aid the interpretation of molecular findings. We here illustrate the case of a 13‐year‐old female who presented with global developmental delay and later mild intellectual disability, progressive spastic diplegia, spastic‐ataxic gait, dysarthria, urinary urgency, and loss of deep tendon reflexes of the lower extremities. Exome sequencing showed a novel splice‐site variant in trans with a novel missense variant in B4GALNT1 [NM_001478.5: c.532‐1G>C/c.1556G>C (p.Arg519Pro)]. Functional studies in patient‐derived fibroblasts and cell models of GM2 synthase deficiency confirmed a loss of B4GALNT1 function with no synthesis of GM2 and other downstream gangliosides. Collectively these results established the diagnosis of B4GALNT1 ‐associated HSP (SPG26). Our approach illustrates the importance of careful phenotyping and functional characterization of novel gene variants, particularly in the setting of ultra‐rare diseases, and expands the clinical and molecular spectrum of SPG26, a disorder of complex ganglioside biosynthesis." @default.
• W4283753005 created "2022-07-02" @default.
• W4283753005 creator A5011203970 @default.
• W4283753005 creator A5013371358 @default.
• W4283753005 creator A5022424582 @default.
• W4283753005 creator A5023016790 @default.
• W4283753005 creator A5024471353 @default.
• W4283753005 creator A5032647729 @default.
• W4283753005 creator A5033514464 @default.
• W4283753005 creator A5041028445 @default.
• W4283753005 creator A5043911837 @default.
• W4283753005 creator A5046226729 @default.
• W4283753005 creator A5047776373 @default.
• W4283753005 creator A5047938413 @default.
• W4283753005 creator A5052716791 @default.
• W4283753005 creator A5060576443 @default.
• W4283753005 creator A5061051840 @default.
• W4283753005 creator A5071124687 @default.
• W4283753005 creator A5072315177 @default.
• W4283753005 creator A5079691093 @default.
• W4283753005 creator A5084002039 @default.
• W4283753005 date "2022-07-01" @default.
• W4283753005 modified "2023-10-16" @default.
• W4283753005 title "Functional validation of novel variants in <scp><i>B4GALNT1</i></scp> associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis" @default.
• W4283753005 cites W1554967515 @default.
• W4283753005 cites W1972953239 @default.
• W4283753005 cites W1973687042 @default.
• W4283753005 cites W2019404217 @default.
• W4283753005 cites W2022758871 @default.
• W4283753005 cites W2035337456 @default.
• W4283753005 cites W2051341245 @default.
• W4283753005 cites W2083704810 @default.
• W4283753005 cites W2161206768 @default.
• W4283753005 cites W2161292836 @default.
• W4283753005 cites W2171507392 @default.
• W4283753005 cites W2592170845 @default.
• W4283753005 cites W2619159900 @default.
• W4283753005 cites W2900999490 @default.
• W4283753005 cites W2903116634 @default.
• W4283753005 cites W2905452503 @default.
• W4283753005 cites W2949857618 @default.
• W4283753005 cites W2951162972 @default.
• W4283753005 cites W3000481233 @default.
• W4283753005 cites W3133647047 @default.
• W4283753005 cites W3156276136 @default.
• W4283753005 cites W3177828909 @default.
• W4283753005 cites W3202080915 @default.
• W4283753005 cites W4285506734 @default.
• W4283753005 doi "https://doi.org/10.1002/ajmg.a.62880" @default.
• W4283753005 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35775650" @default.
• W4283753005 hasPublicationYear "2022" @default.
• W4283753005 type Work @default.
• W4283753005 citedByCount "2" @default.
• W4283753005 countsByYear W42837530052023 @default.
• W4283753005 crossrefType "journal-article" @default.
• W4283753005 hasAuthorship W4283753005A5011203970 @default.
• W4283753005 hasAuthorship W4283753005A5013371358 @default.
• W4283753005 hasAuthorship W4283753005A5022424582 @default.
• W4283753005 hasAuthorship W4283753005A5023016790 @default.
• W4283753005 hasAuthorship W4283753005A5024471353 @default.
• W4283753005 hasAuthorship W4283753005A5032647729 @default.
• W4283753005 hasAuthorship W4283753005A5033514464 @default.
• W4283753005 hasAuthorship W4283753005A5041028445 @default.
• W4283753005 hasAuthorship W4283753005A5043911837 @default.
• W4283753005 hasAuthorship W4283753005A5046226729 @default.
• W4283753005 hasAuthorship W4283753005A5047776373 @default.
• W4283753005 hasAuthorship W4283753005A5047938413 @default.
• W4283753005 hasAuthorship W4283753005A5052716791 @default.
• W4283753005 hasAuthorship W4283753005A5060576443 @default.
• W4283753005 hasAuthorship W4283753005A5061051840 @default.
• W4283753005 hasAuthorship W4283753005A5071124687 @default.
• W4283753005 hasAuthorship W4283753005A5072315177 @default.
• W4283753005 hasAuthorship W4283753005A5079691093 @default.
• W4283753005 hasAuthorship W4283753005A5084002039 @default.
• W4283753005 hasBestOaLocation W42837530052 @default.
• W4283753005 hasConcept C104317684 @default.
• W4283753005 hasConcept C12125453 @default.
• W4283753005 hasConcept C127716648 @default.
• W4283753005 hasConcept C16671776 @default.
• W4283753005 hasConcept C169760540 @default.
• W4283753005 hasConcept C2776195251 @default.
• W4283753005 hasConcept C2779421357 @default.
• W4283753005 hasConcept C2780395223 @default.
• W4283753005 hasConcept C501734568 @default.
• W4283753005 hasConcept C54355233 @default.
• W4283753005 hasConcept C551499885 @default.
• W4283753005 hasConcept C60644358 @default.
• W4283753005 hasConcept C71924100 @default.
• W4283753005 hasConcept C75563809 @default.
• W4283753005 hasConcept C86803240 @default.
• W4283753005 hasConcept C99508421 @default.
• W4283753005 hasConceptScore W4283753005C104317684 @default.
• W4283753005 hasConceptScore W4283753005C12125453 @default.
• W4283753005 hasConceptScore W4283753005C127716648 @default.
• W4283753005 hasConceptScore W4283753005C16671776 @default.
• W4283753005 hasConceptScore W4283753005C169760540 @default.
• W4283753005 hasConceptScore W4283753005C2776195251 @default.
• W4283753005 hasConceptScore W4283753005C2779421357 @default.

• next