ReviewJournal of medical genetics2007
Cargos and genes: insights into vesicular transport from inherited human disease.
Review in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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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.
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.
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Who cites it
17 citing papers in PubMed, 53 citations in OpenAlex.
- Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.Turkish archives of pediatrics · 2025Article
- Article
- RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling.Nature communications · 2024Article
- Golgi Complex form and Function: A Potential Hub Role Also in Skeletal Muscle Pathologies?International journal of molecular sciences · 2022Article
- BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.EMBO molecular medicine · 2021Article
- Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Aging · 2020Article
- Blood platelet research in autism spectrum disorders: In search of biomarkers.Research and practice in thrombosis and haemostasis · 2019Review
- An SH3PX1-Dependent Endocytosis-Autophagy Network Restrains Intestinal Stem Cell Proliferation by Counteracting EGFR-ERK Signaling.Developmental cell · 2019Article
- Computational identification of vesicular transport proteins from sequences using deep gated recurrent units architecture.Computational and structural biotechnology journal · 2019Article
- COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.Nature genetics · 2015Article
- Richard Scheller and Thomas Südhof receive the 2013 Albert Lasker Basic Medical Research Award.The Journal of clinical investigation · 2013Article
- Rab GTPases implicated in inherited and acquired disorders.Seminars in cell & developmental biology · 2011Review
- A functional null mutation of SCN1B in a patient with Dravet syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.American journal of human genetics · 2009Article
- Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction.PloS one · 2009Article
- Article
- Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.European journal of pediatrics · 2008Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many cellular functions depend on the correct delivery of proteins to specific intracellular destinations. Mutations that alter protein structure and disrupt trafficking of the protein (the "cargo") occur in many genetic disorders. In addition, an increasing number of disorders have been linked to mutations in the genes encoding components of the vesicular transport machinery responsible for normal protein trafficking. We review the clinical phenotypes and molecular pathology of such inherited "protein-trafficking disorders", which provide seminal insights into the molecular mechanisms of protein trafficking. Further characterisation of this expanding group of disorders will provide a basis for developing new diagnostic techniques and treatment strategies and offer insights into the molecular pathology of common multifactorial diseases that have been linked to disordered trafficking mechanisms.
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Registered trials
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.