Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
11 authors.
Hugo DavidResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.ORCID 0000-0002-9623-4017
Jlenia MonfregolaTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Isaura RibeiroLaboratório de Bioquímica Genética, Serviço de Genética Laboratorial, Clínica de Genética e de Patologia, Centro de Genética Médica Jacinto de Magalhães, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Maria Teresa CardosoReference Center for Diagnosis and Treatment, Centro Hospitalar e Universitário de São João (CHUSJ), Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.ORCID 0000-0001-9908-3739
Ana Catarina SandiaresResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.ORCID 0009-0004-3276-060X
Luciana MoreiraResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.
Maria Francisca CoutinhoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.ORCID 0000-0002-2222-3622
Dulce QuelhasLaboratório de Bioquímica Genética, Serviço de Genética Laboratorial, Clínica de Genética e de Patologia, Centro de Genética Médica Jacinto de Magalhães, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Andrea BallabioTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Sandra AlvesResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.ORCID 0000-0002-8881-9197
Marisa EncarnaçãoResearch and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA, I. P.), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.ORCID 0000-0002-3726-2851
Funding
Fundação para a Ciência e Tecnologia EXPL/BTM-TEC/1477/2021
6 · The paper itself
Abstract
Niemann-Pick type C (NPC) is a lysosomal storage disorder (LSD) caused by pathogenic variants in either the
Indexed as
FibroblastsLysosomesNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPolymorphism, Single NucleotideCell LineFemaleHumansIntracellular Signaling Peptides and ProteinsMaleProtein TransportIntracellular Signaling Peptides and ProteinsNiemann-Pick C1 ProteinNPC1 protein, humanARPE-19cell modelscomplex alleleslysosomal storage disordersNiemann–Pick type CNPC1p.Ala1035Valphenotypic variabilityp.Ile1061Thrp.Ile858Val
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease. · full record | OpenQuestion