Disease group (molecular)

Articles

• protein misfolding diseases
  14 January 2006

  protein-misfolding diseases, misfolding diseases, protein folding associated 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

• WT1-associated diseases
  11 May 2004

  WT1 mutations-associated disorders, WT1-related diseases, WT1-related disorders

• NOD2-associated autoinflammatory disease
  10 July 2012

  NOD2-associated diseases. NAID
  Definition: NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.
  Mutations in the gene encoding NOD2 in humans have been associated with Crohn’s disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS).
  These diseases have in common features of dysregulated inflammation, but have very distinct phenotypes, which have been hypothesized to result from either (...)

• myofibrillar myopathies
  7 March 2004

  The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
  Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...)

• 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

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

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