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The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.

PolyQ repeats in neural proteins evolve together, affecting brain function and disease.

SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.

The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

S100A6 is important for cell functions and can help diagnose and treat diseases.

S100A3 protein is mainly found in specific parts of human hair cells.

Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.

Alzheimer's patients have higher levels of certain chemicals in their hair.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.

Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Inflammasome proteins may help diagnose and treat Parkinson's disease.

Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.

Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.

MRI can show unusual brain changes in adrenomyeloneuropathy.

Extracellular vesicles can worsen Alzheimer's but also offer potential for diagnosis and treatment.

Friedreich's ataxia causes thin, weak hair with surface damage and cavities.

Giant axonal neuropathy changes the structure of keratin in human hair.

Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.