| http://purl.uniprot.org/citations/35775650 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35775650 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.62880"xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Furukawa K."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Ohno S."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Yamaguchi Y."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Sharma N."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Sahin M."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Nitta T."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Ziegler M."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Inamori K.I."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Manabe N."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Ebrahimi-Fakhari D."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "de Gusmao C.M."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Kambe M."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Inokuchi J.I."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Ohmi Y."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Saffari A."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Bhuiyan R.H."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Alecu J.E."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Jumo H."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/author | "Furakawa K."xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/35775650 | http://purl.uniprot.org/core/pages | "2590-2598"xsd:string |