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Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

Yair Anikster
Marjan Huizing
Jorge R. Toro
Research16 Jul 2001
Nature Genetics

Volume: 28, P: 376-380
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay-Aygun and colleagues report that NBEAL2 is mutated in gray platelet syndrome (GPS). GPS is a recessive platelet disorder that can lead to severe bleeding.

Meral Gunay-Aygun
Tzipora C Falik-Zaccai
William A Gahl
Research17 Jul 2011
Nature Genetics

Volume: 43, P: 732-734
Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS

Yair Anikster
Cynthia Lucero
William A Gahl
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 136
Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

William A Gahl
Vorasuk Shotelersuk
Juan S Bonifacino
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 138
Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

Yair Anikster
Cynthia Lucero
William A Gahl
Research01 Jan 2000
Pediatric Research

Volume: 47, P: 17
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Nuria Carrillo
May C. Malicdan
William A. Gahl
ResearchOpen Access13 Jul 2021
Genetics in Medicine

Volume: 23, P: 2067-2075
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Leslie Biesecker and colleagues report exome sequencing of an individual with combined malonic and methylmalonic aciduria (CMAMMA). With follow-up sequencing of an additional eight cases, they confirm ACSF3 as a cause of CMAMMA. They further report a canine model for CMAMMA that has a mutation in a putative ACSF3 ortholog.

Jennifer L Sloan
Jennifer J Johnston
Charles P Venditti
Research14 Aug 2011
Nature Genetics

Volume: 43, P: 883-886
Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy

Marjan Huizing
Wim Ruitenbeek
Lambert P Van Den Heuvel
Research01 May 1996
Pediatric Research

Volume: 39, P: 760-765
Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

Marjan Huizing
Charles D Scher
William A Gahl
Research01 Feb 2002
Pediatric Research

Volume: 51, P: 150-158
Retro-orbital injections in mice

Tal Yardeni
Michael Eckhaus
Shelley Hoogstraten-Miller
Special Features20 Apr 2011
Lab Animal

Volume: 40, P: 155-160

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Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS

Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy

Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

Retro-orbital injections in mice

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