Literature DB >> 18544035

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Marjan Huizing1, Amanda Helip-Wooley, Wendy Westbroek, Meral Gunay-Aygun, William A Gahl.   

Abstract

Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders.

Entities:  

Mesh：

Year:  2008        PMID： 18544035      PMCID： PMC2755194          DOI： 10.1146/annurev.genom.9.081307.164303

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN： 1527-8204            Impact factor:   8.929


  130 in total

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Journal:  Semin Thromb Hemost       Date:  2004-10       Impact factor: 4.180

2.  Letters to the Editor: Abnormal lamellar bodies in type II pneumocytes and increased lung surface active material in the beige mouse.

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Journal:  J Histochem Cytochem       Date:  1975-11       Impact factor: 2.479

Review 3.  The biogenesis of lysosomes.

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Authors:  C A Suárez-Quian
Journal:  Tissue Cell       Date:  1987       Impact factor: 2.466

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Journal:  Blood       Date:  1979-12       Impact factor: 22.113

6.  Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients.

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Journal:  Blood       Date:  1987-09       Impact factor: 22.113

7.  Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Authors:  Marjan Huizing; Richard Hess; Heidi Dorward; David A Claassen; Amanda Helip-Wooley; Robert Kleta; Muriel I Kaiser-Kupfer; James G White; William A Gahl
Journal:  Traffic       Date:  2004-09       Impact factor: 6.215

8.  Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism.

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Journal:  Am J Pathol       Date:  1980-12       Impact factor: 4.307

9.  A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Authors:  Henry Houlden; Rosalind H M King; John R Muddle; Thomas T Warner; Mary M Reilly; Richard W Orrell; Lionel Ginsberg
Journal:  Ann Neurol       Date:  2004-10       Impact factor: 10.422

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Journal:  Blood       Date:  1988-11       Impact factor: 22.113
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  154 in total

1.  Hermansky-Pudlak syndrome: the importance of molecular subtyping.

Authors:  N Thielen; M Huizing; J G Krabbe; J G White; T J Jansen; P A Merle; W A Gahl; S Zweegman
Journal:  J Thromb Haemost       Date:  2010-04-30       Impact factor: 5.824

2.  Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.

Authors:  Erkang Fei; Xiaochuan Ma; Cuiqing Zhu; Ting Xue; Jie Yan; Yuxia Xu; Jiangning Zhou; Guanghui Wang
Journal:  J Biol Chem       Date:  2010-10-04       Impact factor: 5.157

3.  Acrosome biogenesis: Revisiting old questions to yield new insights.

Authors:  Giovanna Berruti; Chiara Paiardi
Journal:  Spermatogenesis       Date:  2011-04

4.  BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.

Authors:  Jarred J Bultema; Andrea L Ambrosio; Carolyn L Burek; Santiago M Di Pietro
Journal:  J Biol Chem       Date:  2012-04-16       Impact factor: 5.157

Review 5.  Mechanisms of protein delivery to melanosomes in pigment cells.

Authors:  Anand Sitaram; Michael S Marks
Journal:  Physiology (Bethesda)       Date:  2012-04

6.  Sculpting the endomembrane system in deep time: high resolution phylogenetics of Rab GTPases.

Authors:  Marek Elias; Andrew Brighouse; Carme Gabernet-Castello; Mark C Field; Joel B Dacks
Journal:  J Cell Sci       Date:  2012-02-24       Impact factor: 5.285

7.  LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

Authors:  Abdullah Alangari; Abdulrahman Alsultan; Nouran Adly; Michel J Massaad; Iram Shakir Kiani; Abdulrahman Aljebreen; Emad Raddaoui; Abdul-Kareem Almomen; Saleh Al-Muhsen; Raif S Geha; Fowzan S Alkuraya
Journal:  J Allergy Clin Immunol       Date:  2012-06-19       Impact factor: 10.793

Review 8.  Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.

Authors:  Brice Korkmaz; Marshall S Horwitz; Dieter E Jenne; Francis Gauthier
Journal:  Pharmacol Rev       Date:  2010-12       Impact factor: 25.468

Review 9.  C. elegans as a model for membrane traffic.

Authors:  Ken Sato; Anne Norris; Miyuki Sato; Barth D Grant
Journal:  WormBook       Date:  2014-04-25

10.  Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Authors:  Verónica T Cheli; Richard W Daniels; Ruth Godoy; Diego J Hoyle; Vasundhara Kandachar; Marta Starcevic; Julian A Martinez-Agosto; Stephen Poole; Aaron DiAntonio; Vett K Lloyd; Henry C Chang; David E Krantz; Esteban C Dell'Angelica
Journal:  Hum Mol Genet       Date:  2009-12-16       Impact factor: 6.150
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