Therapeutic Approaches 

Fragile X syndrome : Kinase pathway inhibition restores PSD95 induction in neurons lacking fragile X mental retardation protein

• Consult the Pubmed abstract

• To read more about “Fragile X syndrome”

• Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):12007-12012

Fragile X Syndrome : Sustained correction of associative learning deficits after brief, early treatment in a rat model

• Consult the Pubmed abstract

• To read more about “Fragile X syndrome”

• Sci Transl Med. 2019 May 29;11(494)

CRISPR/Cas9 PIG -A gene editing in nonhuman primate model demonstrates no intrinsic clonal expansion of PNH HSPCs

• Consult the Pubmed abstract

• To read more about “Paroxysmal nocturnal hemoglobinuria”

• Blood. 2019 Jun 6;133(23):2542-2545

Friedreich ataxia : GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in cellular models

• Consult the Pubmed abstract

• To read more about “Friedreich ataxia”

• Hum Mol Genet. 2019 May 15;28(10):1594-1607

Degenerative cerebellar ataxia : Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat

• Consult the Pubmed abstract

• Ann Neurol. 2019 May;85(5):681-690. doi: 10.1002/ana.25464

Hereditary hemorrhagic telangiectasia : Angiopoietin-2 Inhibition Rescues Arteriovenous Malformation in a Smad4 Mouse Model

• Consult the Pubmed abstract

• Circulation. 2019 Apr 23;139(17):2049-2063

Acute intermittent porphyria : Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

• Consult the Pubmed abstract

• To read more about “Acute intermittent porphyria”

• Hum Mol Genet. 2019 Jun 1;28(11):1755-1767

Hemophilia B : Dysfunctional endogenous FIX impairs prophylaxis in a mouse model

• Consult the Pubmed abstract

• To read more about “Hemophilia B”

• Blood. 2019 May 30;133(22):2445-2451.

Metachromatic leukodystrophy : Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy

• Consult the Pubmed abstract

• To read more about “Metachromatic leukodystrophy”

• Hum Mol Genet. 2019 Jun 1;28(11):1810-1821

Charcot-Marie-Tooth disease type 4C : Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

• Consult the Pubmed abstract

• Brain. 2019 May 1;142(5):1227-1241

Osteogenesis imperfecta : Sclerostin antibody reduces long bone fractures in the oim/oim model

• Consult the Pubmed abstract

• To read more about “Osteogenesis imperfecta”

• Bone. 2019 Jul;124:137-147

Duchenne muscular dystrophy : TIPE2 gene transfer with adeno-associated virus 9 ameliorates dystrophic pathology in mdx mice

• Consult the Pubmed abstract

• To read more about “Duchenne muscular dystrophy”

• Hum Mol Genet. 2019 May 15;28(10):1608-1619.

Lowe syndrome and Dent disease : OCRL deficiency impairs endolysosomal function in a humanized mouse model

• Consult the Pubmed abstract

• To read more about “Oculocerebrorenal syndrome of Lowe”

• Hum Mol Genet. 2019 Jun 15;28(12):1931-1946

Recessive dystrophic epidermolysis bullosa : Clinically relevant correction by dual sgRNA CRISPR/Cas9-mediated gene editing

• Consult the Pubmed abstract

• To read more about “Recessive dystrophic epidermolysis bullosa, generalized intermediate”

• Mol Ther. 2019 May 8;27(5):986-998