PMID- 26427484
OWN - NLM
STAT- MEDLINE
DCOM- 20160418
LR  - 20161109
IS  - 0065-2598 (Print)
IS  - 0065-2598 (Linking)
VI  - 854
DP  - 2016
TI  - Lysosomal Trafficking Regulator (LYST).
PG  - 745-50
LID - 10.1007/978-3-319-17121-0_99 [doi]
AB  - Regulation of vesicle trafficking to lysosomes and lysosome-related organelles 
      (LROs) as well as regulation of the size of these organelles are critical to 
      maintain their functions. Disruption of the lysosomal trafficking regulator 
      (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive 
      disorder characterized by oculocutaneous albinism, prolonged bleeding, severe 
      immunodeficiency, recurrent bacterial infection, neurologic dysfunction and 
      hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the 
      syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, 
      cytolytic granules and platelet dense bodies. The most striking CHS ocular 
      pathology observed is an enlargement of melanosomes in the retinal pigment 
      epithelium (RPE), which leads to aberrant distribution of eye pigmentation, and 
      results in photophobia and decreased visual acuity. Understanding the molecular 
      function of LYST and identification of its interacting partners may provide 
      therapeutic targets for CHS and other diseases associated with the regulation of 
      LRO size and/or vesicle trafficking, such as asthma, urticaria and Leishmania 
      amazonensis infections.
FAU - Ji, Xiaojie
AU  - Ji X
AD  - The Jackson Laboratory, 04609, Bar Harbor, ME, USA. xiaojie.ji@jax.org.
AD  - Graduate School of Biomedical Sciences and Engineering, University of Maine, 600 
      Main Street, Orono, USA. xiaojie.ji@jax.org.
FAU - Chang, Bo
AU  - Chang B
AD  - The Jackson Laboratory, 04609, Bar Harbor, ME, USA. bo.chang@jax.org.
FAU - Naggert, Jurgen K
AU  - Naggert JK
AD  - The Jackson Laboratory, 04609, Bar Harbor, ME, USA. juergen.naggert@jax.org.
FAU - Nishina, Patsy M
AU  - Nishina PM
AD  - The Jackson Laboratory, 04609, Bar Harbor, ME, USA. pmn@jax.org.
LA  - eng
GR  - R01 EY019943/EY/NEI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Adv Exp Med Biol
JT  - Advances in experimental medicine and biology
JID - 0121103
RN  - 0 (Vesicular Transport Proteins)
SB  - IM
MH  - Animals
MH  - Chediak-Higashi Syndrome/metabolism/physiopathology
MH  - Cytoplasmic Granules/*metabolism
MH  - Humans
MH  - Lysosomes/*metabolism
MH  - Melanosomes/*metabolism
MH  - Organelles/*metabolism
MH  - Photophobia/metabolism/physiopathology
MH  - Retinal Pigment Epithelium/metabolism/physiopathology
MH  - Vesicular Transport Proteins/*metabolism
MH  - Visual Acuity
OTO - NOTNLM
OT  - Chediak-Higashi syndrome
OT  - Lysosomal trafficking regulator (LYST)
OT  - Lysosome
OT  - Lysosome-related organelles
OT  - Melanosome
OT  - Retinal Pigment Epithelium (RPE)
OT  - Vesicle trafficking
EDAT- 2015/10/03 06:00
MHDA- 2016/04/19 06:00
CRDT- 2015/10/03 06:00
PHST- 2015/10/03 06:00 [entrez]
PHST- 2015/10/03 06:00 [pubmed]
PHST- 2016/04/19 06:00 [medline]
AID - 10.1007/978-3-319-17121-0_99 [doi]
PST - ppublish
SO  - Adv Exp Med Biol. 2016;854:745-50. doi: 10.1007/978-3-319-17121-0_99.