En cours

Articles

• intracellular membrane transport
  2 June 2006

  intracellular-membrane transport, membrane transport

• ERGIC
  3 June 2006

  endoplasmic reticulum-Golgi intermediate compartment

• protein-sorting apparatus
  3 June 2006

  Pathology
  genetic diseases of intracellular-membrane transport diseases affecting the protein-sorting apparatus germline mutations of LMAN1 in combined deficiency of coagulation factors V and VIII
  References
  Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: #11027745#

• protein transport
  20 October 2003

  protein trafficking, intracellular protein transport

• combined deficiency of coagulation factors V and VIII
  3 June 2006

  multiple coagulation factor deficiency (FMFD1); MCFD1

• Hermansky-Pudlak disease
  29 October 2003

  Hermansky-Pudlak syndrome

• choroideremia
  3 June 2006

  Choroideremia is an X-linked form of retinitis pigmentosa characterized by degeneration of the retinal pigment epithelium and the adjacent choroid and retinal photoreceptor-cell layers.
  Physiopathology
  The gene mutated in choroideremia was identified as that encoding component A of the Rab geranylgeranyltransferase, also designated Rab escort protein 1 (REP-1).
  This protein and its isoform, Rab escort protein 2 (REP-2), are essential for the modification of the Rab GTPases by hydrophobic (...)

• mucolipidosis type 2
  17 February 2006

  Inclusion-cell disease, I-cell disease, IC disease, mucolipidosis type II, Mucolipidosis II

• GDI1
  3 June 2006

  GDP dissociation inhibitors (GDIs) are proteins that regulate the GDP-GTP exchange reaction of members of the rab family (RABS), small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles.
  The rab proteins (RABs) undergo activation upon GTP binding, and GTP hydrolysis to GDP inactivates the protein. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound RABs.
  X-linked (...)

• Chediak-Higashi disease
  6 September 2005

  Definition: Chediak-Higashi disease is caused by LYST mutations at 1q42 (MIM.214500). The LYST gene encodes a cytosolic protein named lysosomal-trafficking regulator.
  Chediak-Higashi syndrome is an autosomal recessive disorder caused by mutation of the lysosomal trafficking regulator protein. Phagolysosomes and melanosomes are dysfunctional, resulting in pyogenic infections, oculocutaneous albinism and peripheral neuropathy. Dohle bodies may be found in PMNS, and bone marrow biopsy shows (...)