MFN2 wt Allele

Known as: HSG, CMT2A2, CPRP1 
Human MFN2 wild-type allele is located in the vicinity of 1p36.22 and is approximately 33 kb in length. This allele, which encodes mitofusin-2… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Mitofusins (Mfn1 and Mfn2) are outer mitochondrial membrane proteins involved in regulating mitochondrial dynamics. Mutations in… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 3
Is this relevant?
Highly Cited
2004
Highly Cited
2004
We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with… (More)
  • table 1
  • figure 1
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Vascular proliferative disorders, such as atherosclerosis and restenosis, are the most common causes of severe cardiovascular… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively… (More)
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2002
Highly Cited
2002
BACKGROUND Recent data have outlined a relationship between the composition of the intestinal microflora and allergic… (More)
  • figure 1
  • table 1
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
OBJECTIVE To compare the diagnostic accuracy, pain scores, and procedure length of outpatient hysteroscopy (OHS… (More)
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?