Results 101 to 110 of about 77,821 (298)

Schwann cell spectrins modulate peripheral nerve myelination

, 2011
During peripheral nerve development, Schwann cells ensheathe axons and form myelin to enable rapid and efficient action potential propagation. Although myelination requires profound changes in Schwann cell shape, how neuron–glia interactions converge on ...
Matthew N. Rasband, Keiichiro Susuki, Yasuhiro Ogawa, Michael C. Stankewich, Elior Peles, Alya R. Raphael, William S. Talbot   +6 more
core   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

The Ormdl genes regulate the sphingolipid synthesis pathway to ensure proper myelination and neurologic function in mice

eLife, 2019
Sphingolipids are membrane and bioactive lipids that are required for many aspects of normal mammalian development and physiology. However, the importance of the regulatory mechanisms that control sphingolipid levels in these processes is not well ...
Benjamin A Clarke, Saurav Majumder, Hongling Zhu, Y Terry Lee, Mari Kono, Cuiling Li, Caroline Khanna, Hailey Blain, Ronit Schwartz, Vienna L Huso, Colleen Byrnes, Galina Tuymetova, Teresa M Dunn, Maria L Allende, Richard L Proia   +14 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

CNS myelination and remyelination depend on fatty acid synthesis by oligodendrocytes

eLife, 2019
Oligodendrocytes (OLs) support neurons and signal transmission in the central nervous system (CNS) by enwrapping axons with myelin, a lipid-rich membrane structure.
Penelope Dimas, Laura Montani, Jorge A Pereira, Daniel Moreno, Martin Trötzmüller, Joanne Gerber, Clay F Semenkovich, Harald C Köfeler, Ueli Suter   +8 more
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Scoping literature review: Comparing MRI tractography methods for optic radiation analysis

The Anatomical Record, EarlyView.
Abstract Accurate tractography mapping of the optic radiations is essential to avoiding post‐operative visual field deficits in patients undergoing temporal lobe surgery. This literature review highlights the current landscape of MRI tractography methods that are used to delineate the optic radiations (ORs), with a particular focus on the anterior ...
Hriday Sahni, Cristina Schaurich, Lara Boyd, Claudia Krebs   +3 more
wiley   +1 more source

Nerve Growth Factor is Sufficient to Cause Multiple Osteoarthritis‐Relevant Pathologic Features in Naïve Murine Knee Joints

Arthritis &Rheumatology, EarlyView.
Objective Nerve growth factor (NGF), a key mediator of pain, is increased in osteoarthritic (OA) joints. Antibodies against NGF show analgesic effects in painful knee OA, but clinical development was stopped because of side effects in the joints. Knowledge about the biologic effects of NGF on joint tissues is limited. Therefore, we explored the effects
Alia M. Obeidat, Michael D. Newton, Jun Li, Baofeng Hu, Shingo Ishihara, Lindsey Lammlin, Lucas M. Junginger, Easton C. Farrell, Lai Wang, Frank C. Ko, Richard J. Miller, Carla R. Scanzello, Tristan Maerz, Rachel E. Miller, Anne‐Marie Malfait   +14 more
wiley   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source