hereditary sensory and motor neuropathy/potasiu

Linkul este salvat în clipboard

ArticoleStudii cliniceBrevete

Alegeți tipul de sortare

10 rezultate

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

Numai utilizatorii înregistrați pot traduce articole

Disruption of the potassium/chloride cotransporter 3 (KCC3), encoded by the SLC12A6 gene, causes hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder affecting both the peripheral nervous system and

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Numai utilizatorii înregistrați pot traduce articole

Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental

Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.

Numai utilizatorii înregistrați pot traduce articole

Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain. Conversely, KCC3

Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice.

Numai utilizatorii înregistrați pot traduce articole

Peripheral myelin protein 22 (PMP22) is a tetraspan glycoprotein whose misexpression is associated with a family of hereditary peripheral neuropathies. In a recent report, we have characterized a novel PMP22-deficient mouse model in which the first two coding exons were replaced by the lacZ

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

Numai utilizatorii înregistrați pot traduce articole

BACKGROUND Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive autosomal recessive polyneuropathy. Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as responsible for HMSN/ACC in the French Canadian (FC)

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Numai utilizatorii înregistrați pot traduce articole

The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Numai utilizatorii înregistrați pot traduce articole

BACKGROUND

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in SLC12A6 have been associated with autosomal-recessive hereditary motor and sensory neuropathy with agenesis of the

Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse.

Numai utilizatorii înregistrați pot traduce articole

Potassium/Chloride cotransporters are transmembrane proteins that regulate cell volume and control neuronal activity by transporting K(+) and Cl(-) ions across the plasma membrane. Potassium/Chloride cotransporter 3 (KCC3) mutations are responsible for hereditary motor and sensory neuropathy with

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.

Numai utilizatorii înregistrați pot traduce articole

The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish

Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters

Numai utilizatorii înregistrați pot traduce articole

Background/aims: Loss-of-Function (LOF) of the potassium chloride cotransporter 3 (KCC3) results in hereditary sensorimotor neuropathy with Agenesis of the Corpus Callosum (HSMN/ACC). Our KCC3 knockout mouse recapitulated axonal swelling and tissue vacuolization

Alăturați-vă paginii
noastre de facebook

Herbal & Natural Medicine

Cea mai completă bază de date cu plante medicinale susținută de știință

Funcționează în 55 de limbi
Cure pe bază de plante susținute de știință
Recunoașterea ierburilor după imagine
Harta GPS interactivă - etichetați ierburile în locație (în curând)
Citiți publicațiile științifice legate de căutarea dvs.
Căutați plante medicinale după efectele lor
Organizați-vă interesele și rămâneți la curent cu noutățile de cercetare, studiile clinice și brevetele

Tastați un simptom sau o boală și citiți despre plante care ar putea ajuta, tastați o plantă și vedeți boli și simptome împotriva cărora este folosit.
* Toate informațiile se bazează pe cercetări științifice publicate