Literature DB >> 23174301

Organelle biogenesis: en BLOC exchange for RAB32 and RAB38.

Michael S Marks1.   

Abstract

Prominent subtypes of the genetic disorder Hermansky-Pudlak syndrome result from defects in a mysterious protein complex, BLOC-3. New work identifies BLOC-3 as a guanine nucleotide exchange factor for two RAB GTPases previously implicated in lysosome-related organelle biogenesis.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID： 23174301      PMCID： PMC3513372          DOI： 10.1016/j.cub.2012.10.005

Source DB:  PubMed          Journal:  Curr Biol        ISSN： 0960-9822            Impact factor:   10.834


  20 in total

1.  The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.

Authors:  J Oh; Z X Liu; G H Feng; G Raposo; R A Spritz
Journal:  Hum Mol Genet       Date:  2000-02-12       Impact factor: 6.150

2.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.

Authors:  J M Gardner; S C Wildenberg; N M Keiper; E K Novak; M E Rusiniak; R T Swank; N Puri; J N Finger; N Hagiwara; A L Lehman; T L Gales; M E Bayer; R A King; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

3.  The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome.

Authors:  Marta Hoffman-Sommer; Marcin Grynberg; Roza Kucharczyk; Joanna Rytka
Journal:  Traffic       Date:  2005-07       Impact factor: 6.215

4.  Mutation of melanosome protein RAB38 in chocolate mice.

Authors:  Stacie K Loftus; Denise M Larson; Laura L Baxter; Anthony Antonellis; Yidong Chen; Xufeng Wu; Yuan Jiang; Michael Bittner; John A Hammer; William J Pavan
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-26       Impact factor: 11.205

5.  Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome.

Authors:  Susan H Guttentag; Amana Akhtar; Jian-Qin Tao; Elena Atochina; Michael E Rusiniak; Richard T Swank; Sandra R Bates
Journal:  Am J Respir Cell Mol Biol       Date:  2005-03-24       Impact factor: 6.914

Review 6.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Authors:  Maria L Wei
Journal:  Pigment Cell Res       Date:  2006-02

7.  Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

Authors:  Thuyen Nguyen; Edward K Novak; Maryam Kermani; Joachim Fluhr; Luanne L Peters; Richard T Swank; Maria L Wei
Journal:  J Invest Dermatol       Date:  2002-11       Impact factor: 8.551

8.  Expression profiling reveals novel pathways in the transformation of melanocytes to melanomas.

Authors:  Keith Hoek; David L Rimm; Kenneth R Williams; Hongyu Zhao; Stephan Ariyan; Aiping Lin; Harriet M Kluger; Aaron J Berger; Elaine Cheng; E Sergio Trombetta; Terence Wu; Michio Niinobe; Kazuaki Yoshikawa; Gregory E Hannigan; Ruth Halaban
Journal:  Cancer Res       Date:  2004-08-01       Impact factor: 12.701

9.  Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes.

Authors:  Christina Wasmeier; Maryse Romao; Lynn Plowright; Dorothy C Bennett; Graça Raposo; Miguel C Seabra
Journal:  J Cell Biol       Date:  2006-10-16       Impact factor: 10.539

10.  BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Authors:  Andreas Gerondopoulos; Lars Langemeyer; Jin-Rui Liang; Andrea Linford; Francis A Barr
Journal:  Curr Biol       Date:  2012-10-18       Impact factor: 10.834
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  5 in total

1.  Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

Authors:  Daisuke Miyamichi; Miki Asahina; Junya Nakajima; Miho Sato; Katsuhiro Hosono; Takahito Nomura; Takashi Negishi; Noriko Miyake; Yoshihiro Hotta; Tsutomu Ogata; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2016-05-26       Impact factor: 3.172

2.  Melanocytic galectin-3 is associated with tyrosinase-related protein-1 and pigment biosynthesis.

Authors:  Allison Chalupa; Amy Koshoffer; Emily Galan; Lan Yu; Fu-Tong Liu; Raymond E Boissy
Journal:  J Invest Dermatol       Date:  2014-07-23       Impact factor: 8.551

3.  Rab9A is required for delivery of cargo from recycling endosomes to melanosomes.

Authors:  Sarmistha Mahanty; Keerthana Ravichandran; Praneeth Chitirala; Jyothi Prabha; Riddhi Atul Jani; Subba Rao Gangi Setty
Journal:  Pigment Cell Melanoma Res       Date:  2016-01       Impact factor: 4.693

4.  PIKfyve regulates melanosome biogenesis.

Authors:  Marc C Liggins; Jessica L Flesher; Sohail Jahid; Priya Vasudeva; Victoria Eby; Shunsuke Takasuga; Junko Sasaki; Takehiko Sasaki; Raymond E Boissy; Anand K Ganesan
Journal:  PLoS Genet       Date:  2018-03-27       Impact factor: 5.917

5.  Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Authors:  Sajjad Karim; Samah Saharti; Nofe Alganmi; Zeenat Mirza; Ahmed Alfares; Shereen Turkistany; Manal Al-Attas; Hend Noureldin; Khadega Al Sakkaf; Heba Abusamra; Mohammed Al-Qahtani; Adel Abuzenadah
Journal:  Life (Basel)       Date:  2021-12-23
  5 in total

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