Mutations in SEPT9 cause hereditary neuralgic amyotrophy
G Kuhlenbäumer, MC Hannibal, E Nelis… - Nature …, 2005 - nature.com
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy
affecting the brachial plexus. HNA is triggered by environmental factors such as infection or …
affecting the brachial plexus. HNA is triggered by environmental factors such as infection or …
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
MC Hannibal, EK Ruzzo, LR Miller, B Betz, JG Buchan… - Neurology, 2009 - AAN Enterprises
Background: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder
that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to …
that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to …
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules
X Bai, JR Bowen, TK Knox, K Zhou, M Pendziwiat… - Journal of Cell …, 2013 - rupress.org
Septin 9 (SEPT9) interacts with microtubules (MTs) and is mutated in hereditary neuralgic
amyotrophy (HNA), an autosomal-dominant neuropathy. The mechanism of SEPT9 …
amyotrophy (HNA), an autosomal-dominant neuropathy. The mechanism of SEPT9 …
Septin9 is involved in septin filament formation and cellular stability
A Füchtbauer, LB Lassen, AB Jensen, J Howard… - 2011 - degruyter.com
Abstract Septin9 (Sept9) is a member of the filament-forming septin family of structural
proteins and is associated with a variety of cancers and with hereditary neuralgic …
proteins and is associated with a variety of cancers and with hereditary neuralgic …
Conquering the complex world of human septins: implications for health and disease
EA Peterson, EM Petty - Clinical genetics, 2010 - Wiley Online Library
Peterson EA and Petty EM. Conquering the complex world of human septins: implications for
health and disease. Septins are highly conserved filamentous proteins first characterized in …
health and disease. Septins are highly conserved filamentous proteins first characterized in …
Translational control of SEPT9 isoforms is perturbed in disease
SS McDade, PA Hall, SEH Russell - Human molecular genetics, 2007 - academic.oup.com
A common feature of the mammalian septin gene family is complex genomic architecture
with multiple alternate splice variants. Septin 9 has 18 distinct transcripts encoding 15 …
with multiple alternate splice variants. Septin 9 has 18 distinct transcripts encoding 15 …
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy
PF Chance - Neuromolecular medicine, 2006 - Springer
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous
neuropathy) is an autosomal-dominant disorder that produces a painless episodic …
neuropathy) is an autosomal-dominant disorder that produces a painless episodic …
Septin/anillin filaments scaffold central nervous system myelin to accelerate nerve conduction
Myelination of axons facilitates rapid impulse propagation in the nervous system. The
axon/myelin-unit becomes impaired in myelin-related disorders and upon normal aging …
axon/myelin-unit becomes impaired in myelin-related disorders and upon normal aging …
Targeted disruption of Sept3, a heteromeric assembly partner of Sept5 and Sept7 in axons, has no effect on developing CNS neurons
K Fujishima, H Kiyonari, J Kurisu… - Journal of …, 2007 - Wiley Online Library
The septins constitute a family of GTPase proteins that are involved in many cytological
processes such as cytokinesis and exocytosis. Previous studies have indicated that …
processes such as cytokinesis and exocytosis. Previous studies have indicated that …
Expression profiling the human septin gene family
PA Hall, K Jung, KJ Hillan… - The Journal of Pathology …, 2005 - Wiley Online Library
The septins are an evolutionarily conserved family of GTP‐binding proteins involved in
diverse processes including vesicle trafficking, apoptosis, remodelling of the cytoskeleton …
diverse processes including vesicle trafficking, apoptosis, remodelling of the cytoskeleton …