ArticleHuman mutation2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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.
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Who cites it
24 citing papers in PubMed.
- The TRAP complex (SSR1-SSR4): mechanistic roles and therapeutic opportunities.Annals of medicine · 2026Review
- Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.Journal of human genetics · 2026Article
- Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review.Frontiers in pediatrics · 2026Article
- Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.Orphanet journal of rare diseases · 2025Article
- Multi-Omics Characterization of a NovelMetabolites · 2025Article
- Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.Global medical genetics · 2025Article
- Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation.Journal of human genetics · 2025Article
- NovelFrontiers in pediatrics · 2025Article
- Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.Molecular genetics & genomic medicine · 2024Article
- Long-chain acyl-CoA synthetase regulates systemic lipid homeostasis via glycosylation-dependent lipoprotein production.Life metabolism · 2024Article
- Molecular view of ER membrane remodeling by the Sec61/TRAP translocon.EMBO reports · 2023Article
- Quantitative Mass Spectrometry Characterizes Client Spectra of Components for Targeting of Membrane Proteins to and Their Insertion into the Membrane of the Human ER.International journal of molecular sciences · 2023Review
- Article
- Structural insights into TRAP association with ribosome-Sec61 complex and translocon inhibition by a CADA derivative.Science advances · 2023Article
- Case Report: The novel hemizygous mutation in theFrontiers in genetics · 2022Article
- Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex.Cells · 2021Review
- The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress.Science advances · 2021Article
- X-chromosome association studies of congenital heart defects.American journal of medical genetics. Part A · 2020Article
- Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.Journal of inherited metabolic disease · 2019Article
- Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import.Nature communications · 2018Article
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated neurological disorder or unsolved CDG of unknown etiology based on abnormal transferrin glycosylation. We now report eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. Western blot analysis revealed that the mutations caused a complete loss of SSR4 protein. In nearly all cases, the abnormal glycosylation of serum transferrin was only slightly above the accepted normal cutoff range.
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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.