Disease group (molecular)

Articles

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• serpinopathies
  24 January 2006

  In humans, several serpin mutations are linked to diseases.
  Serpins are vulnerable to mutations that result in protein misfolding and the formation of inactive long chain polymers (serpinopathies).
  Serpin polymerisation reduces the amount of active inhibitor, as well as accumulation of serpin polymers causing cell death and organ failure.
  For example, the serpin alpha1-antitrypsin is primarily produced in the liver, and antitrypsin polymerisation causes hepatocytic necrosis and liver (...)

• OXPHOS diseases
  27 January 2005

  OXPHOS deficiency, anomalies of oxydative phosphorylation, mitochondrial respiratory-chain diseases, mitochondrial cytopathy, mitochondriopathies

• protein misfolding diseases
  14 January 2006

  protein-misfolding diseases, misfolding diseases, protein folding associated diseases

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

• neurofilamentopathies
  18 March 2004

  Pathology (neurofilamentopathies)
  NEFL germline mutations in
  autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
  germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)
  NEFH variants in susceptibility to amyotrophic lateral sclerosis (ALS) (MIM.105400)
  See also
  intermediate filaments
  neurofilaments
  NEFL
  NEF3 (NEFM)
  NEFH
  References
  Lariviere RC, Julien JP. Functions of intermediate filaments in (...)

• cytoskeletopathies
  18 March 2004

  cytoskeletalopathies

• polyalanine repeat diseases
  23 April 2004

  polyalanine expansion diseases

• laminopathies
  15 September 2003

  ’Laminopathies’ are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types.
  Laminopathies comprise a group of inherited diseases with variable clinical phenotypes, caused by mutations in the lamin A/C gene (LMNA).
  A prominent feature in several of these diseases is muscle wasting, as seen in Emery Dreifuss muscle dystrophy, dilated cardiomyopathy and limb-girdle muscular (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

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