|
Centronuclear myopathy
|
0.060 |
Biomarker
|
disease |
BEFREE |
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
|
30894500 |
2019 |
|
Centronuclear myopathy
|
0.060 |
Biomarker
|
disease |
BEFREE |
Our data demonstrate that the alteration of the muscle-specific function of amphiphysin 2 is a common pathomechanism for centronuclear myopathy, myotonic dystrophy, and IMGD.
|
23754947 |
2013 |
|
Centronuclear myopathy
|
0.060 |
Biomarker
|
disease |
BEFREE |
Our results support a role for N-WASP in amphiphysin-2-dependent nuclear positioning and triad organization and in CNM and myotonic dystrophy pathophysiology.
|
25262827 |
2014 |
|
Centronuclear myopathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM).
|
20434914 |
2010 |
|
Centronuclear myopathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Here, we focused on amphiphysin 2 (BIN1, also known as bridging integrator-1) and dynamin 2 (DNM2), two ubiquitous proteins implicated in membrane remodeling and mutated in centronuclear myopathies (CNMs).
|
29130937 |
2017 |
|
Centronuclear myopathy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
|
20927630 |
2011 |
|
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
The neuropathies in isolated amphiphysin-IgG autoimmunity included polyradiculoneuropathy (62%), diffuse sensory neuronopathy (35%), and facial neuropathy with gastroparesis (3%).
|
31624089 |
2019 |
|
Autoimmune Diseases
|
0.030 |
Biomarker
|
group |
BEFREE |
To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin.
|
7757077 |
1995 |
|
Autoimmune Diseases
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Our study suggests a link between amphiphysin I expression in cancer and amphiphysin I autoimmunity.
|
9513187 |
1998 |
|
Malignant neoplasm of breast
|
0.030 |
Biomarker
|
disease |
BEFREE |
Some studies found that AMPH-1 was a dominant autoantigen associated with breast cancer and melanoma.
|
30143925 |
2019 |
|
Malignant neoplasm of breast
|
0.030 |
Biomarker
|
disease |
BEFREE |
We report that amphiphysin I was expressed as two isoforms of 128 and 108 kD in the breast cancer of a patient with anti-amphiphysin I antibodies and paraneoplastic sensory neuronopathy.
|
9513187 |
1998 |
|
Malignant neoplasm of breast
|
0.030 |
Biomarker
|
disease |
BEFREE |
In summary, our results identified the anti-oncogenic function of AMPH-1 in breast cancer <i>in vitro</i> and <i>in vivo</i>.
|
29937937 |
2018 |
|
Myopathy
|
0.030 |
GeneticVariation
|
group |
BEFREE |
The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy.
|
24569368 |
2014 |
|
Myopathy
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Nucleus positioning is key for intracellular organization, cell differentiation, and organ development and is affected in many diseases, including myopathies due to alteration in amphiphysin-2 (BIN1).
|
26506308 |
2015 |
|
Myopathy
|
0.030 |
Biomarker
|
group |
BEFREE |
However, the muscle-specific function of amphiphysin 2 and its pathogenicity in both muscle disorders are not well understood.
|
23754947 |
2013 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
In summary, our results identified the anti-oncogenic function of AMPH-1 in breast cancer <i>in vitro</i> and <i>in vivo</i>.
|
29937937 |
2018 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Some studies found that AMPH-1 was a dominant autoantigen associated with breast cancer and melanoma.
|
30143925 |
2019 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
We report that amphiphysin I was expressed as two isoforms of 128 and 108 kD in the breast cancer of a patient with anti-amphiphysin I antibodies and paraneoplastic sensory neuronopathy.
|
9513187 |
1998 |
|
Attention deficit hyperactivity disorder
|
0.030 |
Biomarker
|
disease |
BEFREE |
Initially available as racemic (dl)-AMP, this drug was later supplanted by enantiopure (d)-AMPH or enantioenriched (75:25 dl)-AMP formulations; although racemic AMP returned as an approved drug to treat ADHD in 2014.
|
28910145 |
2017 |
|
Attention deficit hyperactivity disorder
|
0.030 |
Biomarker
|
disease |
BEFREE |
To determine the efficacy and safety of amphetamine extended-release oral suspension (AMPH EROS) in the treatment of attention-deficit/hyperactivity disorder (ADHD) in a dose-optimized, randomized, double-blind, parallel-group study.
|
29211967 |
2018 |
|
Attention deficit hyperactivity disorder
|
0.030 |
Biomarker
|
disease |
BEFREE |
To determine whether amphetamine extended-release oral suspension (AMPH EROS) has an onset of effect at 30 minutes postdose in children with attention-deficit/hyperactivity disorder (ADHD).
|
30575407 |
2019 |
|
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
The AMPH1 protein reduction was validated in Alzheimer's disease cases.
|
22975846 |
2012 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In a subsequent promoter analysis, we found the single nucleotide polymorphism rs744373 C-allele to be associated with high mRNA levels of bridging integrator 1 (BIN1)/Amphiphysin 2, i.e. a major component of the endocytotic machinery and located in a crucial genetic AD risk locus.
|
26631617 |
2016 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
BIN1 is structurally related to amphiphysin, a breast cancer-associated autoimmune antigen, and RVS167, a negative regulator of the yeast cell cycle, suggesting roles in malignancy and cell cycle control.
|
8782822 |
1996 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
The enhanced expression of amphiphysin I in some forms of cancer supports the hypothesis that amphiphysin family members may play a role in the biology of cancer cells.
|
9513187 |
1998 |