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Qaagi - Book of Why

Causes

Effects

a neurodegenerative disorderresultsfrom mutations in the SMN1 gene ... leading to survival motor neuron ( SMN ) protein deficiency

Infants with SMA type 1 have homozygous gene mutations or deletion of SMN1leadingto a lack of survival motor neuron ( SMN ) protein and the death of motor neurons , which are particularly reliant on it

Mutations in genes that control microtubule regulation and dynamics have been shownto causemotor neuron degeneration in mice and in a form of human motor neuron disease

Loss of myotubularinalso resultedin reduction of MTMR12 protein in C2C12 cells , mice and humans

One prominent example of a neurodegenerative disease featuring RNA dysfunction ... infancyresultsfrom ubiquitous deficiency in the survival motor neuron ( SMN ) protein ( Burghes and Beattie 2009

lower levels of a protein called BDNF , a member of the neurotrophin familyis composedof proteins that regulate the development , function , and survival of neurons

These results together indicateinfluencescell survival and acts as an anti - apoptotic protein in neural cells

a pediatric motor neuron diseaseresultingfrom the loss of the survival motor neuron ( SMN ) protein

Spinal muscular atrophy ( SMA ... the spinal cordresultsfrom the loss of survival motor neuron ( SMN ) protein

The diseaseresultsfrom low levels of the protein encoded by the survival motor neuron ( SMN ) gene

the diseaseresultsthe genetic source of survival motor neuron ( SMN ) protein

that results from mutations in the SMN1 geneleadingto survival motor neuron ( SMN ) protein deficiency

the researchersdesigneda protein to be expressed in neurons of the mouse motor cortex

SMA ... the survival motor neuron 1 ( SMN1 ) geneleadsto a deficiency of the survival motor neuron ( SMN ) protein

expressioncontributesto germ cell / stem cell homeostasis and neural development

motor neuron 1 ( SMN1 ) geneleadsa deficiency of the survival motor neuron ( SMN ) protein

Spinal muscular atrophy ( SMAresultsfrom insufficient levels of the survival motor neuron ( SMN ) protein

neuron 1 ( SMN1 ) generesultsin a deficiency of the survival motor neuron ( SMN ) protein

the survival motor neuron 1 ( SMN1 ) geneleadingto a decrease in the protein , survival motor neuron ( SMN

the survival motor neuron 1 , or SMN1 , geneleadingto a decrease in the survival motor neuron , or SMN protein

endogenous soluble proteinsinfluencingsurvival , development and morphological plasticity of nerve cells ( " neurotrophism

the channels and molecular processescontributeto motor neuron excitability in primary mouse and human iPSC - derived motor neurons

Spinal muscular atrophyresultsfrom the lack of survival motor neuron ( SMN ) protein

The mutationsleadto a deficiency of the survival motor neuron protein

the survival motor neuron 1 ( SMN1 ) geneleadingto a decrease in the survival motor neuron protein

defect in , the survival motor neuron 1 ( SMN1 ) geneleadingto a decrease in the survival motor neuron protein

SMN1 ) geneleadingto a decrease in the survival motor neuron protein

The neuromuscular disease spinal muscular atrophy ( SMA ) is a leading genetic cause of infant mortalityresultingfrom low levels of full - length survival motor neuron ( SMN ) protein

Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy ( SMAresultingfrom low levels of ubiquitously - expressed survival motor neuron ( SMN ) protein

by a genetic defect in the SMN1 gene which codes for SMN(passive) caused bythe survival of motor neuron ( SMN ) protein in snRNP biogenesis

The autosomal recessive neurodegenerative disease spinal muscular atrophy ( SMAresultsfrom low levels of survival motor neuron ( SMN ) protein

Spinal muscular atrophy ( SMA ... deleterious variants in SMN1leadto a marked decrease in survival motor neuron ( SMN ) protein expression

SMA ... a missing or defective SMN1 generesultsin reduced levels of the survival motor neuron ( SMN ) protein

The autosomal recessive neurodegenerative diseaseresultsfrom low levels of survival motor neuron ( SMN ) protein

by mutations in the SMN1 gene(passive) caused bythe survival motor neuron ( SMN ) protein

The diseaseresultsfrom low levels of the protein encoded by the survival motor neuron

This reduction in inflammationresultedin improved neural cell function and survival

by homozygous deletions in the SMN gene(passive) caused bysurvival motor neuron ( SMN ) protein

Higher levels of SMN2 RNAwould leadto high levels of survival motor neuron protein

by mutations in the SMN1 gene(passive) caused bysurvival of motor neurons " ) protein

The disorder(passive) is caused byThe disorder

This disease(passive) is caused byThis disease

The disease(passive) is caused byThe disease

SMA(passive) is caused bySMA

Spinal Muscular Atrophy ( SMA(passive) is caused bySpinal Muscular Atrophy ( SMA

spinal muscular atrophy in model miceto causespinal muscular atrophy in model mice

Spinal muscular atrophy ( SMA(passive) is caused bySpinal muscular atrophy ( SMA

muscular atrophy ( SMA(passive) is caused bymuscular atrophy ( SMA

spinal muscular atrophy in model mice expressing the human centromeric ( SMN2 ) geneto causespinal muscular atrophy in model mice expressing the human centromeric ( SMN2 ) gene

Spinal muscular atrophy(passive) is caused bySpinal muscular atrophy

to a decrease in the survival motorleadingto a decrease in the survival motor

to Spinal Muscular Atrophy ( SMAleadingto Spinal Muscular Atrophy ( SMA

to restoration of nuclear - staining foci ... called gems , which are absent in patients with severe SMAcan leadto restoration of nuclear - staining foci ... called gems , which are absent in patients with severe SMA

The underlying pathology of SMA(passive) is caused byThe underlying pathology of SMA

The underlying pathology of SMA(passive) is caused byThe underlying pathology of SMA

This inherited condition(passive) is caused byThis inherited condition

spinal muscular atrophy ( SMA(passive) is caused byspinal muscular atrophy ( SMA

SMA is known(passive) to be caused bySMA is known

Spinal muscular atrophy ( SMA(passive) is caused bySpinal muscular atrophy ( SMA

to the loss of spinal motor neuronsleadsto the loss of spinal motor neurons

the genetic neuromuscular disorder spinal muscular atrophy ( SMA ) , characterized by spinal cord motoneuron degenerationcausesthe genetic neuromuscular disorder spinal muscular atrophy ( SMA ) , characterized by spinal cord motoneuron degeneration

Spinal muscular atrophy ( SMA(passive) is caused bySpinal muscular atrophy ( SMA

a neuromuscular disease(passive) caused bya neuromuscular disease

The disease(passive) is caused byThe disease

The disease(passive) is caused byThe disease

The neurodegenerative disease spinal muscular atrophy ( SMA(passive) is caused byThe neurodegenerative disease spinal muscular atrophy ( SMA

The human SMN kit(passive) is designedThe human SMN kit

defects in motor axon outgrowth and pathfindingcausesdefects in motor axon outgrowth and pathfinding

SMA(passive) is caused bySMA

SMA(passive) is caused bySMA

to a decrease in the proteinleadingto a decrease in the protein

to pancreas regeneration after targeted T cell removalmay contributeto pancreas regeneration after targeted T cell removal

a neuromuscular disease(passive) caused bya neuromuscular disease

muscles to atrophy over timecausesmuscles to atrophy over time

an inherited neurodegenerative disease(passive) caused byan inherited neurodegenerative disease

all the systemic defects(passive) caused byall the systemic defects

Spinal muscular atrophy ( SMA(passive) is caused bySpinal muscular atrophy ( SMA

a neuromuscular disorder(passive) caused bya neuromuscular disorder

a neuromuscular disorder(passive) caused bya neuromuscular disorder

Spinal muscular atrophy ( SMA ) , the leading genetic disease of children(passive) is caused bySpinal muscular atrophy ( SMA ) , the leading genetic disease of children

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