Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0026850 (
muscular dystrophy
)
5,870
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs). The role of Schwann cells (SCs) in regulating NMJ structural and functional development remains unclear. In this study, mice with conditional inactivation of
neurofibromin 1
(
Nf1
) and
phosphatase and tensin homolog
(
Pten
), specifically in SCs, resulted in delayed NMJ maturation that led to delayed muscle growth, recapitulating the
muscular dystrophy
condition observed in human neurofibromatosis type I syndrome (NF1) patients. Expression levels of NMJ development related molecules such as
cholinergic receptor
,
nicotinic
,
alpha polypeptide
1
(
Chrna1
),
agrin
(
Agrn
),
dystrophin
,
muscular dystrophy
(
Dmd
),
laminin
,
beta 2
(
Lamb2
) and
dystroglycan 1
(
Dag1
) were also downregulated. To further explore the molecular alterations in these SCs, NF1- and PTEN-related pathways were analyzed in mutant sciatic nerves. As expected, hyperactive RAS/PI3K/AKT/mTOR signaling pathways were identified, suggesting the importance of these pathways for NMJ development, and subsequent muscle maturation.
...
PMID:Conditional Inactivation of
Nf1
and
Pten
in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation. 3047 82
