Ataxia Related Research Tools

Ataxia is a degenerative disease of the nervous system. It is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinates movement, such as the cerebellum. Ataxia can have an insidious onset with a chronic and progressive clinical course (e.g. spinocerebellar ataxias of genetic origin) or have an acute onset resulting from cerebellar infarction, hemorrhage, or infection. Ataxia usually manifests as:

Lack of coordination
Trouble eating and swallowing
Slurred speech
Difficulty in walking
Eye movement abnormalities
Deterioration of fine motor skills
Tremors
Gait abnormalities
Heart problems

Fig.1 Mitochondrial pathophysiology in Friedreich's Ataxia.

Ataxia can be a symptom of a multisystemic disorder, and an underlying etiology needs to be investigated. Ongoing discoveries of genetic abnormalities suggest the possible relations to mitochondrial dysfunction, related protein misfolding, abnormal mechanisms of DNA repair, oxidative stress, and abnormalities in cytoskeletal proteins.

Creative Biolabs is committed to promoting neurology disorders’ research and has developed a series of products to study those treatable and reversible etiologies of Ataxia, especially those from potentially life-threatening causes. These products portfolio includes recombinant proteins, antibodies, analytical/diagnostic kits and other small molecules.

Pathways and Genes Related to Ataxia

Super Pathways	Top Affiliating Genes
A Double-Strand Break Repair	XRCC1, TDP1, PNKP, LIG3, FEN1, ATM
TCR Signaling	WASL, WAS, PIK3R5, CACNA1A, ATM, ACTA1
Chks in Checkpoint Regulation	XRCC1, PNKP, LIG3, FEN1, ATM
G-protein Signaling RAC1 in Cellular Process	WASL, WASF1, WAS, PIK3R5, ACTA1
Iron Metabolism in Placenta	TFRC, ACO1
Mitochondrial Iron-sulfur Cluster Biogenesis	LYRM4, FXN

For Research Use Only. Not For Clinical Use.

Target

NEFM

NTRK2

NR2E3

CrkL

Dab1

Nogo A

NF2

SAP102

Mint-1

CD111

Synaptophysin

Als2

Neuroligin 4

STXBP2

LIM Kinase 1

Laminin alpha 4/LAMA4

PMP22

Sarcoplasmic Reticulum

Gemin 2

Amyloid Beta

Alpha Synuclein

Neurofilament L

Galectin 7

APEX1

AMPK Alpha 1

Sodium-Iodide Symporter

Nidogen-1

PGP9.5

Proinsulin

EAAT2

TBK1

Notch 1

Ataxia Related Research Tools

Pathways and Genes Related to Ataxia

Target

The Spectrum of Stem Cell-Based Neuronal Models and Their Fit for Purpose