Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility ; volume:15 ; number:1 ; day:20 ; month:5 ; year:2024 ; pages:1-24 ; date:12.2024
Nature Communications ; 15, Heft 1 (20.5.2024), 1-24, 12.2024

Creator: Khan, Debjit
Ramachandiran, Iyappan
Vasu, Kommireddy
China, Arnab
Khan, Krishnendu
Cumbo, Fabio
Halawani, Dalia
Terenzi, Fulvia
Zin, Isaac
Long, Briana
Costain, Gregory
Blaser, Susan
Carnevale, Amanda
Gogonea, Valentin
Dutta, Ranjan
Blankenberg, Daniel
Yoon, Grace
Fox, Paul L.

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41467-024-48549-x

URN: urn:nbn:de:101:1-2407292131598.070669816181

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Associated

Khan, Debjit
Ramachandiran, Iyappan
Vasu, Kommireddy
China, Arnab
Khan, Krishnendu
Cumbo, Fabio
Halawani, Dalia
Terenzi, Fulvia
Zin, Isaac
Long, Briana
Costain, Gregory
Blaser, Susan
Carnevale, Amanda
Gogonea, Valentin
Dutta, Ranjan
Blankenberg, Daniel
Yoon, Grace
Fox, Paul L.
SpringerLink (Online service)

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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

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Other Objects (12)

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Chemoproteogenomic stratification of the missense variant cysteinome

Missense variant contribution to USP9X-female syndrome

P02-025 - Homozygous Q705K sequence variant in NLRP3

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

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A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Chemoproteogenomic stratification of the missense variant cysteinome

Missense variant contribution to USP9X-female syndrome

P02-025 - Homozygous Q705K sequence variant in NLRP3

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Chemoproteogenomic stratification of the missense variant cysteinome

Missense variant contribution to USP9X-female syndrome

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Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

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A recurrent homozygous ACTN2 variant associated with core myopathy

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