Search Results - "Della-Rippa B"

ATP6V1B2 Regulating Autophagy Flux To Affect Abnormal Auditory Development.

Authors: Feng Z Li J Yang Y et al.

Source: Applied biochemistry and biotechnology [Appl Biochem Biotechnol] 2026 Jul; Vol. 198 (7), pp. 5330-5345. Date of Electronic Publication: 2026 Apr 17.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8208561 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0291 (Electronic) Linking ISSN: 02732289 NLM ISO Abbreviation: Appl Biochem Biotechnol Subsets: MEDLINE

Therapeutic potential of cAMP-mediated lysosomal pH modulation in ATP6V1B2-related neuropathology.

Authors: Zheng L Zhao W Yang G et al.

Source: Cell death discovery [Cell Death Discov] 2026 Mar 27; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.

Authors: Falace, Antonio Volpedo, Greta Scala, Marcello et al.

Source: Cells (2073-4409). Sep2024, Vol. 13 Issue 17, p1441. 21p.

Proteomic and Bioinformatic Tools to Identify Potential Hub Proteins in the Audiogenic Seizure-Prone Hamster GASH/Sal.

Authors: García-Peral, Carlos Ledesma, Martín M. Herrero-Turrión, M. Javier et al.

Source: Diagnostics (2075-4418). Mar2023, Vol. 13 Issue 6, p1048. 28p.

Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.

Authors: Sheng W Wang P Cai Y et al.

Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 702-712. Date of Electronic Publication: 2024 Jul 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.

Authors: Veltra D Kosma K Papavasiliou A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3563-3566. Date of Electronic Publication: 2022 Sep 22.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Authors: Gao X Dai P Yuan YY

Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 821-838. Date of Electronic Publication: 2021 Jul 07.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.

Authors: Perez SM Augustineli HS Marcello MR

Source: Journal of developmental biology [J Dev Biol] 2025 Jan 25; Vol. 13 (1). Date of Electronic Publication: 2025 Jan 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101613409 Publication Model: Electronic Cited Medium: Internet ISSN: 2221-3759 (Electronic) Linking ISSN: 22213759 NLM ISO Abbreviation: J Dev Biol Subsets: PubMed not MEDLINE

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.

Authors: Rousseau J Tene Tadoum SB Lavertu Jolin M et al.

Source: Genes [Genes (Basel)] 2023 Jul 27; Vol. 14 (8). Date of Electronic Publication: 2023 Jul 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE