What do we learn from the murine Jacob/Nsmf gene knockout for human disease?
Standard
What do we learn from the murine Jacob/Nsmf gene knockout for human disease? / Spilker, Christina; Grochowska, Katarzyna M; Kreutz, Michael R .
In: Rare Diseases, Vol. 4, No. 1, 2016, p. e1241361.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - What do we learn from the murine Jacob/Nsmf gene knockout for human disease?
AU - Spilker, Christina
AU - Grochowska, Katarzyna M
AU - Kreutz, Michael R
PY - 2016
Y1 - 2016
N2 - Mutations in the NSMF gene have been related to Kallmann syndrome. Conflicting results have been reported on the subcellular localization of Jacob/NELF, the protein encoded by the NSMF gene. Some reports indicate an extracellular localization and a function as a guidance molecule for migration of GnRH-positive neurons from the olfactory placode to the hypothalamus. Other studies have shown protein transport of Jacob from synapse-to-nucleus and indicate a role of the protein in neuronal activity-dependent gene expression. A recent publication casts doubts on a major role of Jacob/NELF in Kallmann syndrome and neuronal migration of GnRH-positive neurons during early development. Instead a murine NSMF gene knockout results in hippocampal dysplasia, impaired BDNF-signaling during dendritogenesis, and phenotypes related to the lack of BDNF-induced nuclear import of Jacob in early postnatal development.
AB - Mutations in the NSMF gene have been related to Kallmann syndrome. Conflicting results have been reported on the subcellular localization of Jacob/NELF, the protein encoded by the NSMF gene. Some reports indicate an extracellular localization and a function as a guidance molecule for migration of GnRH-positive neurons from the olfactory placode to the hypothalamus. Other studies have shown protein transport of Jacob from synapse-to-nucleus and indicate a role of the protein in neuronal activity-dependent gene expression. A recent publication casts doubts on a major role of Jacob/NELF in Kallmann syndrome and neuronal migration of GnRH-positive neurons during early development. Instead a murine NSMF gene knockout results in hippocampal dysplasia, impaired BDNF-signaling during dendritogenesis, and phenotypes related to the lack of BDNF-induced nuclear import of Jacob in early postnatal development.
U2 - 10.1080/21675511.2016.1241361
DO - 10.1080/21675511.2016.1241361
M3 - SCORING: Journal article
C2 - 27803842
VL - 4
SP - e1241361
JO - Rare Diseases
JF - Rare Diseases
SN - 2167-5511
IS - 1
ER -
